BAI JERBAI WADIA

HOSPITAL FOR CHILDREN

PEDIATRIC CLINICS
FOR POST GRADUATES
 PREFACE

This book is a compilation of the discussions carried out at the course for post-graduates

on ” Clinical Practical Pediatrics” at the Bai Jerbai Wadia Hospital for Children, Mumbai. It

has been prepared by the teaching faculty of the course and will be a ready-reckoner for

the exam-going participants. This manual covers the most commonly asked cases in

Pediatric Practical examinations in our country and we hope that it will help the students

in their practical examinations. An appropriately taken history, properly elicited clinical

signs, logical diagnosis with the differential diagnosis and sound management principles

definitely give the examiner the feeling that the candidate is fit to be a consultant of

tomorrow.

Wishing you all the very best for your forthcoming examinations.

Dr.N.C.Joshi
Dr.S.S.Prabhu
Program Directors.

1
 FOREWARD

I am very happy to say that the hospital has taken an initiative to organize this CME for

the postgraduate students. The hospital is completing 75 years of its existence and has

done marvelous work in providing excellent sevices to the children belonging to the poor

society of Mumbai and the country. The hospital gets cases referred from all over the

country and I am proud to say that the referrals has stood the confidence imposed on the

hospital and its faculty. We do get even the rarest of the rare cases which get diagnosed

and treated.

I am sure all of you will be immensely benefited by this programme.

Wish you all the best in your examination and career.

Brig (Retd.) . Dr. K.B.N.S.Dod

Chief Senior Executive
Wadia Group of Hospitals

2
 TIPS FOR CANDIDATES

Ten Commandments

1. Dress appropriately as a future consultant. Always wear a neatly washed and

ironed apron. Sit straight and mind your body language, especially your speech
and hand movements i.e. practice speaking before appearing for exams.

2. Always be able to summarize, encapsulate the essence and emphasize the major
issues without losing too much detail. Hence practice case presentations. Mental
rehearsal of the case helps in fluent presentation and makes you appear
confident.

3. Wish the examiner/s when you enter and thank them when you leave.

4. Present the case boldly, confidently and clearly with an attitude of a future
consultant and not a resident (poor speech affects your viva performance).

5. Maintain eye contact with the examiner/s when answering questions

6. When asked to demonstrate clinical signs, give a brief description of what you
want to show the examiners. Always be brief and factual and avoid jargon, slang,
abbreviations and meaning-less expressions.

7. Never antagonize or argue with the examiners .You will always lose. Remember
that the examiner is the judge, jury and the final word.

8. Be clear in what you want to tell. Avoid statement like slightly pale, not looking
good, maybe edematous…..

9. Always have your own equipment set which includes- pens, paper, growth charts,
stethoscope, fundoscope, otoscope, measuring tape, cotton, knee hammer, tuning
fork, pins, torch with batteries, Colorful toys, disposable spatulas, hand held eye
charts (if available).

10. Always appear for the examination with a positive attitude. It helps.

3
 List of contributors
Anaita Hegde.
Archana.Limaye
Ira Shah.
K.N. Shah.
Kumud.P.Mehta.
Meena. P.Desai.
M. P. Colaco.
N.C. Joshi.
Parmananad.A.
Priti Mehta.
Rajesh Joshi.
Ruchira Pahare.
Shakuntala Prabhu.
Shilpa Kamat.
Sudha Rao.
Sumitra Venkatesh.
Uma.S.Ali.
Vrajesh Udani.

4
 INDEX

1. Tuberculous Meningitis 6
2. Cerebral Palsy 9
3. Acute Infantile Hemiplegia 12
4. Ataxia 17
5. Duchenne’s Muscular Dystrophy 20
6. Floppy Infant 22
7. Chorea 25
8. Hydrocephalus 28
9. Meningomyelocoele 31
10. Paraplegia 34
11. Guillian Barre Syndrome 39
12. Neuroregression 42
13. Congenital Heart Diseases 48
14. Rheumatic Heart Disease 56
15. PEM 65
16. Rickets 70
17. Short stature 73
18. Ambigious Genetalia 78
19. Bronchiectasis 81
20. Hepatosplenomegaly with anaemia 84
21. Hepatosplenomegaly with jaundice with PHT 89
22. Cholestatic syndrome of infancy 91
23. Rheumatoid Arthritis 94
24. Nephrotic Syndrome 97
25. Newborn 99

5
 TUBERCULOUS MENINGITIS

Name Age Sex Address Consanguinity Handedness

Chief Complains
Fever - mild, moderate, low grade with evening rise.
Convulsions :- focal / generalised seizures
(usually not along with onset of fever ,late in the course of fever)
Altered sensorium :- onset - sudden / insiduous.
Lethargy
Vomiting
Focal neurological deficit -
Hemiplegia / monoplegia / cranial neuropathies.
Origin/Duration/Progress
Chief complains in details.
Narrative history :-
H/o. Abnormality of higher functions - Lethargy , altered sensorium
Convulsions
Cranial nerve palsies - deviation of angle of mouth, drooling of saliva,
squinting, diplopia.
Focal neurological deficits ( hemiplegia /monoplegia).
Abnormal / involuntary movements tremors / chorea / hemiballismus
H/s/o increased intracranial pressure i.e. vomiting / headache / blurring of
vision.
H/s/o meningeal inflammation i.e.neck pain, photophobia, restriction of neck
movement.
H/o bowel, bladder complaints .
History for etiology :-
H/o. head injury ( may precipitate TBM)
H/o. otorrhoea - (pyogenic meningitis )
H/o. any treatment taken outside in f/o intramuscular / intravenous injections (Partially
treated pyogenic meningitis)
H/o. vaccines / drugs / sera ( Acute disseminated encephalomyelitis)
H/o. rash, fever, altered sensorium, convulsions ( Viral encephalitis)
H/o. fever with rash (measles)
H/o. whooping cough.
H/o. contact with tuberculosis.
H/o. diarrhoea, fever, chronic cough (HIV)
H/o. immunosuppressive drug intake.
Immunisation history – BCG , Measles.
History for complications :-
H/o bed sores, contractures, skin changes, bladder, bowel complications. (constipation/
urinary infection )

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H/o. seizures.
H/o. decorticate / decerebrate posturing.
Drug history, procedure history.
H/o. any surgery, VP shunt / reservoir
Family history - of koch’s
Nutritional history - malnutrition may precipitate Tuberculous meningitis.
Birth History :-
Developmental history.
Socio economic history - Overcrowding , sanitation.
Examination :-
General examination :-
1] Decubitus
2] Vitals - Temperature ,Pulse , Respiration , Blood pressure.
3] Anthropometry with interpretation.
4] Pallor, cyanosis, clubbing, icterus, lymphadenopathy, edema feet,
5] Stigmata of tubercolosis – Phlycten ,Scrofuloderma ,Sinuses, erythema nodosum
6] Anterior fontanelle
7] Size & heaviness of head
8] crack pot sign
9] BCG scar - present / absent.
10] Neurocutaneous markers
11] Dysmorphic features
12] Presence or absence of IV line, Ryles tube
13] Skull, spine, scars
14] Skin - bedsores
15] Contractures
16] Signs of malnutrition & vitamin deficiency
17] Presence / absence & patency of VP shunt
CNS :-
Higher functions - state of conciousness
Gag reflex
Eye movements
Pupillary reflexes
Corneal / conjunctival reflexes
Motor system examination
Sensory system
Cerebellar signs
Meningeal signs
Hydrocephalus : Heavy head, crackpot or sutural seperation - Signs of increased
intracranial pressure.
Involuntary movements
Fundus - papilloedema / choroid tubercules / optic atrophy.

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Diagnosis :-
---years old M/F child with chronic meningoencephalitis with / without
hemi / monoparesis with / without cranial nerve palsy with / without involuntary
movement with / without signs of increased intracranial pressure.
Probable etiology being TBM.

Investigations :-
Specific for diagnosis of tuberculous meningitis
1] CSF examination (after fundus examination}
CSF for PCR , Tubercular antigen & ADA levels , Tubercular stearic acid
and Bromide partition test.
2] Neuroimaging - CT scan with contrast (in c/o increased intracranial pressure CT
should be done prior to lumbar puncture & LP should be guarded /LP under cover of
mannitol).
3] MT
4] X ray chest
5] Gastric lavage for Acid fast bacillus.
6] CBC - with lymphocytosis & ESR
7] HIV
8] Liver function tests ( prior to treatment & for treatment monitoring}
9] Renal function test
10] Eletrolyte - baseline as well as monitoring to rule out SIADH

Commonly asked questions :

1] Discussion of differential diagnosis
2] Stages of coma
3] Stages of TBM & prognosis in each stage.
4] Signs of meningeal irritation.
5] Signs of increased intracranial pressure
6] Types of herniation
7] Management of TBM - supportive + definitive
8] Types of shunt & complications of shunt
9] Complication of TBM
10] Pathology in TBM & lesion localization
11] CT correlates in TBM
12] Precipitating factors in TBM
13] Poor prognostic factors in TBM
14] Role of steroids
15] Newer modalities of diagnosis of TBM

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 CEREBRAL PALSY
Name Age Sex Handedness Consanguinity

Chief complaints:
- delayed milestones,
- convulsions.

O.P.D.
- Convulsions - Generalised tonic clonic / myoclonic / focal
Infantile spasms.
- Detailed birth history.
Antenatal period - maternal drugs, Xrays, illnesses-like rash , PIH ,DM , fall
- Milestone History Gross motor , fine adaptive ,social , language (with rough
DQ to each category).
- Hand preference.
- Scissoring (difficulty in putting diaper).
- Floppiness of body .
- Power in limbs.
- Impairment of vision, hearing.
- Squinting, CN palsies.
- Swallowing difficulties.
- Involuntary movement
- Dystonia, tremors, chorea, dyskinesia.
- limb dyskinesia , oromotor dyskinesia , jark in the box tongue.
- Mannerisms, stereotypies.
- Bladder, bowel involvement.

For etiology :-
Birth details :Antenatal Infections, twins , trauma,drugs
Neonatal sepsis, kernicterus
Meconium, asphyxia, hypoglycemia.,NICU stay
Post meningitis / trauma.

Family history :-
Any neurological illness / convulsion in any sibling / family
any sibling deaths, any CPs in family.

H/O Complication :-
Convulsions
Feeding difficulty /constipation
recurrent LRTI
contractures, bed sores behavioral problems, injuries, falls.

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H/O Treatment :-
Immunisation :- ?? DPT
Diet History

Examination :
- Vitals
- Anthropometry with interpretation
- General- pallor
Cataract, strabismus,
Skull - Overriding of sutures.
Shape of skull
Anterior Fontanelle
Dysmorphism
Neurocutaneous markers
Eyes - cataract
Dentition
Evidence of. malnutrition , bed sores, contractures - static/ dynamic

CNS :-
 Higher Functions
 Cranial nerves
 Tone power reflexes
 Exaggeration of reflexes:- afferent spread. (Knee Jerk on tapping thigh)
efferent spill over (crossed adductor on knee jerk)
 Development :- supine, prone, pull to sit,
Ventral suspension ,axillary suspension
 Neonatal reflexes
 Hearing
 Vision
 Fundus examination – choreoretinitis / optic atrophy / retinitis pigmentosa
Other systems (organomegaly/ murmurs)

Diagnosis -------------year old M/F with static encephalopathy with motor deficit (spastic
/ hypotonic / mono-di-tri-tetra-para plegia / double hemiplegia)
with functional grade-----------
with convulsion
with squint, hearing deficit
with IQ / DQ (mental / motor age)
with PEM / LRTI/ contractures , with probable etiology ----------

10
Commonly asked questions :-
1] Early markers of CP
2] Functional grades of CP
3] Neonatal reflexes
4] Audiometry
5] MRI correlates in CP
6] Development - gross motor, fine motor, speech ,social
7] Drugs & Surgical procedure to reduce spasticity
8] Associated problems :-
- MR - 50-75% Sp. Quadriplegic
- Seizures - 25-30%
Spastic Quadriplegic C.P. (90%) Spastic Hemiplegic C.P. (30%)
Least in dystonic C.P.
- Hearing & Speech problems-15-20%. in dystonic and spastic C.P.
- Ocular problem 50-70%
- Behaviour problem 30-50%

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 ACUTE INFANTILE HEMIPLEGIA
Name Age Sex Address Consanguinity Handedness
CHIEF COMPLAINTS: paucity of movements of right/left side of the body.
convulsions
ODP-Congenital / acquired
Onset-Catastrophic/acute/sub acute/chronic/static/episodic
Progressive/ static/ improving
Involving the upper limb preferentially/equally
Detailed H/O CNS involvement –
 H/O weakness, proximal/distal
 H/O sensory involvement
 H/O Cranial nerve involvement
 H/O involuntary movements
 H/O bladder / Bowel involvement
 H/O speech abnormality
 H/O gait abnormality
H/O Complications
Bed sores/shortening of limbs/contractures /trophic ulcers
ETIOLOGICAL HISTORY
H/o Trauma-Head injury/Oral cavity injury
- Fracture( Fat embolism)
Hematological causes
H/O pallor
H/O pain in hand/foot/ abdomen (sickle cell crisis)
H/O bleeding from any site/petechae/purpura/ hematemesis / malena
H/O Fever/ bone pain /weight loss (leukemia)
H/O diarrhea/ vomiting oliguria/ hematuria (HUS) or, h/s/o nephrotic
syndrome
Cardiac causes
H/o fever with chills/ petechiae/hematuria (Infective Endocarditis)
H/O cyanosis /cyanotic spell (Cyanotic heart disease) (abscess/
Thrombosis )
H/O fever with joint pain/sore throat (Rheumatic)
H/O Cardiac surgery (Prosthetic heart valve)
H/s/o Hypertension-Headache/ Vomiting/Visual Disturbance
Collagen Vascular Disease
H/o fever with rash with joint pain (SLE)
H/O Claudication (Takayasus)

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Infectious Causes
H/O sore throat (Pharyngeal abscess)
H/O Koch’s/Koch’s contact
H/O Viral exanthems (HSV Encephalitis/ mumps/chicken pox)
H/O Otorrhoea (brain abscess)
H/O Vaccination/ sera (Demyelination)
Dehydration- H/O Acute Gastroenteritis followed by seizures/ coma (sagittal sinus
thrombosis )
H/O recurrent attacks of TIA /hemi paresis (Migraine/Moya-Moya/alternating hemiplegia)
H/O post seizure transient paralysis (Todd’s paralysis)
FAMILY HISTORY
H/O similar attacks in the family (Sickle cell/ homocystinurea/Hyperlipidaemia)
BIRTH HISTORY
Preterm-Subependymal Hemorrhage-Intraventricular hemorrhage
Full-term- Breech/ Traumatic delivery/Birth Asphyxia
H/O Umbilical sepsis / Catheterization (Embolism)
H/o Rash/ fever/ petechae/jaundice (IU infection)
EXAMINATION:
General Examination-Routine examination plus look for dysmorphic features
 Carotid pulses should be palpated as well as auscultated(Moya Moya,Takayasu)
 Anterior Fontanelle
 Head Circumference
 US/LS & Length (homocystinurea)
 Pallor/Cyanosis/Clubbing
 Xanthomas
 Petechiae/Purpura/ Joint bleed/ Rash
 Eyes-Ectopia lentis
 Neurocutaneous Stigmata
 Skull-Trauma/Crack pot/Bruit over the skull.
CNS
Higher Functions- Speech (dysphasia seen in involvement of dominant hemisphere)
Intellectual impairment (Meningitis, Encephalitis, Homocystinurea)
Gait (older child)/Gross motor assessment (infant)
Cranial nerve examination (3,4,6 ,7th & gag reflex)
Motor examination -Tone/Power/Reflexes
Abdominal Reflexes & Plantars
Visual fields for field defects& partial visual neglect (A field defect
infers a lesion at or above the internal capsule)
Higher Centers-Test for dysphasia/ Agraphia/ astereognosis/ two point discrimination,
tactile localisation (these occur when the dominant side is involved)
CVS Examination
SPINE

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 Table 1. Differential Diagnosis of Acute Focal Neurological Deficit

Focal cerebral ischemia

Intracranial hemorrhage
Cerebral abscess
Encephalitis (herpes simplex virus)
Brain tumor
Alternating hemiplegia of infancy
Multiple sclerosis
Malingering/conversion disorder
Epilepsy: post-ictal Todd's paralysis or a focal inhibitory seizure
Complicated migraine

Table 2. Diagnostic Evaluation in a Child with Cerebrovascular Disease

FIRST LINE:
SECOND LINE: Performed within first
Performed within THIRD LINE: Performed
week
first 48 hours of electively as indicated
as indicated
admission

CT scan of brain Echocardiogram HIV

MRI of brain Transcranial and/or carotid dopplers Lyme titers
Complete blood MR angiogram Mycoplasma titers
count EEG Cardiac MRI
PT/PTT Hypercoaguable evaluation Echocardiogram
Electrolytes, Ca, Mg, Antithrombin III (transesophageal)
Phosphorus, Protein C (activity and antigen) Muscle Biopsy
glucose Factor V (leiden) mutation DNA testing for MELAS
Liver function test Antiphospholipid antibody Cerebral angiogram
Chest x-ray ,MT Anticardiolipin (transfemoral)
ESR Lupus-anticoagulant - RA factor Leptomeningeal biopsy
ANA Serum amino acids Serum homocystine after
Urinalysis Urine for organic acids methionine load
BUN, creatinine Blood culture
Urine drug screen Hemoglobin electrophoresis
12-lead EKG Complement profile
VDRL
Lactate /pyruvate
Ammonia
CSF: cell count, protein, glucose,
lactate
Lipid profile

14
LOCALIZATION OF THE LESION IN CASE OF ACUTE INFANTILE HEMIPLEGIA

A) If the cranial nerve palsy is on the same side as that of hemiplegia then the lesion
is above the level of brain stem-Ipsilateral hemiplegia
B) If the cranial nerve palsy is on the side opposite to that of hemiplegia then the
lesion is at or below the brain stem.-Contralateral hemiplegia
IPSILATERAL HEMIPLEGIA

The lesion is either in the cortex , internal capsule or sub cortical region
A) Cortical lesion-
 Hemi paresis-Mild involvement & not dense hemiplegia
 Differential involvement (Upper limbs more than lower or lower limbs more
than upper)
 Altered sensorium may be present
 Convulsions may be present
 Cortical sensory loss may be present
 Astereognosis
 Aphasia (if the dominant cortex is affected0
Involvement of the frontal lobe
Altered behavior/personality
Upper limb affected more than lower limb
Motor aphasia
Convulsions
Bladder/ bowel involvement
Persistent neonatal reflexes on the opposite side
Involvement of the parietal lobe
Cortical sensory loss
Astereognosis
Involvement of the Temporal lobe
Temporal lobe epilepsy
Sensory aphasia
Memory loss
Involvement of occipital lobe
Homonymous hemianopia
B) Internal capsule lesion
Dense Hemiplegia
Hemianaesthesia
Homonymous hemianopia
Dysarthria
C) Subcortical lesion(Corona Radiata)

15
 Same as cortical lesion but features such as convulsions & loss of cortical
sensation are absent

CONTRALATERAL HEMIPLEGIA- Lesion at or below the level of brain stem

A) Lesion in Midbrain
WEBER SYNDROME- 3rd nerve palsy plus crossed Hemiplegia
BENEDICTS SYNDROME-3rd nerve palsy + crossed hemiplegia
+Red nucleus affection (Tremor, rigidity, ataxia on the opposite side)
BLesion in Pons
MILLARD GUBLER SYNDROME-7th nerve palsy +Crossed hemiplegia
FOVILLE SYNDROME-6th nerve palsy + 7th nerve palsy + contra lateral
Hemiplegia
B) Lesion in Medulla
JACKSON SYNDROME-12th nerve palsy + crossed hemiplegia.

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 ATAXIA

Name Age Sex Handedness Consanguinity

Chief Complaints
Swaying gait
Inability to walk
Hand movements, Involuntary movements (tremors)
Unsteadiness in reaching out for objects
Abnormal eye movements (opsoclonus / nystagmus)
Speech problems - dysarthria

ODP OF CHIEF COMPLAINTS

H/O CNS SYMPTOMATOLOGY
Higher function impairment ( speech , memory, emotional lability, scholastic
backwardness)
Regression in milestones
Cranial nerve palsies - eye / face deviation.
Motor deficits
Sensory—difficulty in vision/ feeling ground/ bladder/ bowel complaints
Headache, vomiting, convulsions, unconsciousness, altered sensorium (increased
ICT)
Gait abnormalities – High steppage gait / walking in cloud.

ETIOLOGICAL HISTORY
h/o fever with exanthem( cerebellitis---chicken pox, enteroviruses, coxsackie,influenza)
h/o drugs(piperazine citrate, anticonvulsants,streptomycin)
h/o early morning headache, vomiting, / behavioural changes/ convulsions/
unconsciousness/ altered sensorium(tumor)
h/o trauma
h/o otorrhoea/ tinnitus(vestibulitis)
h/o tingling numbness/paraesthesia/anaesthesia(peripheral neuropathy)
h/o koch’s contact (tuberculoma)
h/o similar complaints in family(hereditary)
h/o mental retardation / regression of milestones( sphingolipidoses/ Marinesco Sjogren
syndrome)
h/o birth asphyxia (ataxic cerebral palsy)
h/o diarrhea/ fat malabsorption (abetalipoproteinemia, vitamin E deficiency)
h/o visual impairment (Refsum’s)
h/s/o liver disease (Wilson’s)
h/o repeated episodes(epilepsy/ Basilar artery migraine)
h/o telengectasia(ataxia telengectasia)
h/o extrapyramidal abnormalities, breathing abnormalities , ptosis (mitochondrial
17
 abnormalities)
h/o constipation /lethargy/ MR(hypothyroidism)
h/o photosensitivity reactions/abdominal pain/psychosis/ urine colour change on
standing (porphyrias)
h/o increasing head circumference (hyrocephalus)

BIRTH HISTORY , DIETARY HISTORY , DEVELOPMENTAL HISTORY

IMMUNIZATION HISTORY & SOCIOECONOMIC HISTORY

ON EXAMINATION
GENERAL
Anthropometry with interpretation
Neurocutaneous markers- telangiectasia, hemangiomas Von Hippel Landau
Skeletal-pes cavus, scoliosis (Fredrich’s ataxia)
Telengectasia

CNS EXAMINATION
Higher Functions – Speech – stacatto/ hot potato/ dysarthria
Cranial nerves
Motor examination - Tone Power Reflexes (pendular , absent (Miller Fischer variant) ,
brisk)
Sensory system
Nystagmus / opsoclonus
Cerebellar signs
Upper limbs-Tone, Past pointing, Rebound test of Gordon holmes,Intention tremor,
Postural holding test.
Lower limbs-Gait, Tandem walking, Rhomberg’s test, Pendular knee jerk, Knee heel test,
Toe to finger test.
Dysdiadokinesia
FUNDUS EXAMINATION-Retinitis pigmentosa, Papillodema, optic atrophy
OTHER SYSTEM EXAMINATION
Hepatosplenomegaly-Wilsons
Cardiac-Cardiomyopathy

DIAGNOSIS------------ …. Yr old R/L handed M/F child with acute/chronic/ progressive/

nonprogressive/recovering/ bilateral/ R/L sided truncal/ axial ataxia with/ without anyother
CNS deficits (motor/ sensory/ with/ without raised ICT) with/ without malnutrition/ trophic
changes probable etiology being -----

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INVESTIGATIONS
Diagnosis is mainly clinical
Routine investigations +
Imaging studies, MRI ( better visualization of posterior fossa and the cerebellum)
Vitamin E levels
Nerve conduction
All investigations to rule out Neuroblastoma should be carried out (urinary VMA level,
MIBG scan , CT chest , abdomen etc.)

CAUSES OF ATAXIA

Acute Episodic Chronic

Idiopathic-acute cerebellar Epilepsy---postictal Fixed deficit------CP,
ataxia Toxins Malformations
Metabolic---hypoglycemia, Metabolic Degenerative----
hyponatremia, Basilar artery migraine ---Friedrichs ataxia,
hyperammonemia Charcot marie tooth,
Infection-bacterial and viral Levy roussy
meningitis, brain stem Inherited------Wilsons,
encephalitis ataxia telengectasia,
Toxins sphingolipidosis.
Hydrocephalus Acquired diseases----
Cerebellar lesion-SOL, hypothyroidism,
tumor, infarct neoplasia, drugs
Neuroblastoma
Polyradiculopathy—guillan
barre, tick paralysis
Labyrinthitis
Brain stem SOL

19
 DUCHENNE MUSCULAR DYSTROPHY

Name Age Sex Handedness Consanguinity

Chief Complaints - Difficulty in getting up from squatting position,

climbing stair.
Frequent falls, tripping while walking.
Toe walking.
Abnormal gait - waddling gait lordotic posture.
Swelling in calf region.

 Onset, duration, progression of weakness.

Onset early - 2-4 years.
Progressive weakness - Symmetrical proximal muscle weakness.
Development of contractures / kypho scoliosis .

Associated complaints.
- Upper limb weakness.
- Pain.
For etiology :-
- H/O. similar complaints. or complication in sib or family. (maternal uncle or
maternal aunt’s children.)
- H/O. constipation, lethargy, neck swelling, delayed milestones, (R/o.
hypothyroidism).
- H/O. drug ingestion (anabolic steroids).
- H/O. rash ,photosensitivity, (polymyositis)
- H/O. cramps, exercise intolerance (Mc ardle)
History for complications :-
H/o. repeated lower respiratory infections/ feeding difficulties, seizures, contractures,
deformities, cardiac involvement.
Family history of :-
- similar complaints. in sibs.
- Death in sibs
- Maternal aunt’s children.
- Mother c/o. weakness, calf pain, calf hypertrophy.
Birth history :-
Developmental history- H/o milestone (motor milestones may be delayed).

20
Examination :-
 Gower’s sign.
 Waddling gait.
 Toe walking.
 Supine position to sitting position.
 Detail muscle charting.
 Note of hypertrophied muscles - Gastrocnemius , Deltoid ,Brachioradialis, soleus
Tongue.
 DTR 1+ to absent
Ankle jerk present till late.

Diagnosis :-
Gradual onset slowly progressive (Insiduous)
Weakness more proximal than distal with calf hypertrophy with onset at ------year with
family history of most probably DMD.

DMD in Girls
 Turner/ mosaic
 Lyonisation.
 Manifest carrier
 Sarcoglyconaphy.

Investigations
1] CPK
SGOT, aldolase, LDH
2] EMG - low amplitude, polyphasic motor unit action potential.
3] Muscle biopsy with Dystrophin staining.
4] Genetic analysis

21
 FLOPPY INFANT

Name Age sex Consanguinity Community Residence

Chief Complaints
Weakness of all 4 limbs and limpness noticed since birth.
Delayed motor and/ or mental milestones.
Abnormal posturing / contractures/ arthrogyphosis

ANTENATAL HISTORY- gravida/ para, registered ?

H/o decreased fetal movements, fever with rash, irradiation, drug exposure (lithium/
phenytoin/ carbamazepine). , polyhydramnios / prolonged labour / LSCS

PERINATAL HISTORY- breech presentation, h/o birth asphyxia, h/o limpness, feeding
difficulties, breathlessness, convulsions in neonatal period., neonatal hyperbilirubinemia

ELABORATION OF C/C.
H/O unilateral/ bilateral weakness of limbs, symmetrical or asymmetrical, sudden
onset/insidious,starting from lower limb and progressing upwards or vice versa. .
Head holding achieved/ partial.
H/O frog like posture
H/O weak cry, h/o feeding difficulties
H/O repeated cough/ cold/fever/ breathlessness
H/O facial asymmetry, pooling of secretions,nasal regurgitation/nasal
twang,dysphagia(involvement of bulbar muscles)
H/O sensory disturbances.
H/O wasting of muscles, H/O fasciculations / fibrillations.
H/O bladder/ bowel disturbances
H/O exaggerated startle (Taysach’s)

ETIOLOGY
H/O Icterus, phototherapy, exchange transfusion (kernicterus)
H/O constipation, prolonged neonatal jaundice (if MR, coarse facies for hypothyroidism)
H/O cyanosis/ altered sensorium(respiratory muscle involvement)
H/O mental development(hypotonic CP)
H/O viral infection/ascending weakness(GBS)
H/O recent vaccination /ring/ pulse polio
H/O flushing/sweating/ palpitation/ postural hypotension/ arrhythmias (dysautonomia)
H/O maternal myasthenia like illness
H/O diurnal variation (mysthenia gravis)
H/O lump in abdomen,early morning hypoglycaemic convulsions with
breathlessness(GSD – Pompe’s)
22
H/O prelacteal feeds like honey f/b bulbar weakness (botulism)
H/O nonprogressive proximal muscle weakness-----congenital myopathies
H/O involuntary movements------congenital cerebellar ataxia
H/O obesity - Prader Willi
H/O cataract/ MR- Lowes
FAMILY HISTORY- h/o deaths in infancy in sibling
MILESTONES - motor +mental
DIET & IMMUNIZATION- last vaccine given (for GBS/ polio)

EXAMINATION
Decubitus- pithed frog position.
HR----/RR------/ regular, abdominothoracic, no e/o resp. distress/BP--------
ANTHROPOMETRY with interpretation
Obesity,dysmorphic facies (Prader- Willi)
Downy facies – Trisomy 21/ Zellweger’s syndrome
Doll like faces – GSD (Pompe)
V shaped face- myotonic dystrophy
Pallor, clubbing, cyanosis, icterus, lymphadenopathy, oedema feet
Anterior fontanelle
Cataract’s(Lowe syndrome)
ENT
Skull/ spine/ genitalia(hypogonadism in prader willi)
Conntractures ,CTEV, CDH
CNS EXAMINATION
Higher functions---conscious, alert looking,recognizes others.
Cranial nerves
Tongue fasciculations
Ptosis with diurnal variation
Fundus---(cherry red spot in GSD type II)
Motor system- muscle wasting (SMA)
muscle hypertrophy(pompe/ congenital muscular dystrophy)
Hypotonia in all 4 limbs
Involuntary movements- ataxia, fasciculation/ fibrillation
Power--shoulder/ elbow/ distal/ hip/ knee/ distal
Diaphragm/ intercostals
Reflexes
Superficial-------cremasteric/ gluteal/ paraspinal reflex
Deep reflexes
Sensory system
P/A-----hepatomegaly----GSD
CVS-----cardiomegaly,murmur, abnormal heart sounds(pompe)
RS--------r/o LRTI
Orthopedic examination
23
DIAGNOSIS--------month old child M/F gradually progressive/ static quadriparesis since
birth ,decreased fetal movements ,no MR, no significant pre/ perinatal events,
generalized hypotonia, areflexia, fasciculations. Most probable diagnosis

INVESTIGATIONS
Diagnosis mainly clinical
EMG---denervation of muscle
Biopsy-----to differentiate spinal muscular atrophy from other congenital myopathies
CPK, nerve conduction, serum enzymes.
MRI – hypotonic C.P. / Congenital muscular dystrophy with MR

24
 CHOREA
Name Age Sex Handedness Consanguinity Community

Chief complaint & ODP

Sudden onset involuntary movements involving---------- limbs
Movements are repetitive/ non repetitive
Rhythmic/nonrhythmic
Migrating from one side to another
Preset/ absent during sleep
H/o proximal/ distal musculature being involved (sydenhams chorea is
distal, minimal brain dysfunction and huntingtons chorea are proximal)
H/o inability to feed, dress, walk (hypotonia associated)
H/o emotional lability associated with it
H/o involuntary movements involving the facial muscles Grimacing ,
oromotor dyskinesia
H/o preceeding streptococcal infection occurring as early as 4 months
prior(sydenhams chorea)
H/o recurrences of choreic movements with intermittent normal
periods(sydenhams/ SLE)
H/o receiving any periodic injections or regular oral medications(penicillin
prophylaxis)
H/o facial rash/ alopecia/ oral ulcers(SLE)
H/o ataxia/ psychosis/ seizures(SLE)
H/o ingestion of drugs(phentoin, haloperidol, INH, reserpine, dextroamphetamine,
methylphenidate)
H/o language difficulties(speech becoming indistinct and at times completely absent)
H/o any major operative intervention in the past(cardiopulmonary bypass surgery)
H/o convulsions/ tetany associated with choreic movements(Fahr disease)
H/o deteriorating school performance, jaundice(Wilsons)
H/o clumsiness with frequent falls &delayed motor milestones(benign hereditary chorea)

BIRTH HISTORY H/o perinatal asphyxia( if positive , choreic movements usually become
apparent between 1st and 3rd yr of life)

FAMILY HISTORY
Family history of rheumatic fever can be elicited in 26% choreic patients. Sydenham’s
chorea is found in 3.5% parents and in 2.1% of siblings of choreic patients.
Fahr disease is transmitted as AR or AD.

DEVELOPMENT Recent onset regression if any.

DIET , IMMUNIZATION & SOCIOECONOMIC HISTORY - AS USUAL.

25
Examination
General Condition
Vitals & Anthropometry with interpretation
Type of involuntary movement-----proximal/ distal
Exacerbated by tension/ stress
Present at rest
Repetitive/ rhythmic
Voluntary/ involuntary
Disappears/ persists in sleep
 Chameleon tongue--as soon as the tongue is protruded, it returns to the mouth.
 Pronator sign-------muscular hypotonia and weakness result in the palms turning
outward when the patient holds the arms above the head.
 Choreic hand------hypotonia can be demonstrated when the arms are extended in
front of the body. The wrist flexes and the metacarpophalangeal joints are
overextended.
 Milkmaid’s grip------the child is unable to maintain muscular contraction and the
grip waxes and wanes abruptly.

CNS EXAMINATION--- Higher functions

Tone
Power
DTR----normal but patellar reflex is hung up.
Plantars
Other system examination. - CVS – e/o carditis & PA – organomegaly

INVESTIGATIONS
X- ray skull------bilateral calcifications in the region of the basal ganglia------Fahr disease
MRI-----increase in size of caudate, putamen and globus pallidusin- sydenhams chorea
Striatal hyperintensity on T2 weighted images indicating greater striatal
damage.
OPTHAL for KF- ring.

26
CAUSES OF CHOREA
Inherited
Ataxia- telengectasia
Benign hereditary chorea
Hallervorden-spatz
disease
Hereditary spino-
cerebellar ataxia
Huntington disease
Inborn error of
metabolism
Glutaric academia
Propionic academia
Homocystinuria
Pyruvate carboxylase
deficiency
PKU
Sulfite oxidase deficiency
Mitochondrial
encephaloyopathies
Neuroacanthocytosis
Wilson disease
Paroxysmal
kinesiogenic
choreoathetosis
Paroxysmal
nonkinesiogenic
choreoathetosis
Vascular
AV malformations
Basal ganglia infarction or
haemmorhage
Moyamoya
Drugs Metabolic
Anticholinergics
Hypocalcemia ,
Anticonvulsants----phenytoin,
hypoglycemia
phenobarbitone,
or hyperglycemia,
carbamazepine.
hypomagnesemia,
Antidopaminergic---
hyponatremia,
phenothiazines,
hypernatremia central
haloperidol, metoclopramide
pontine myelinosis
Antihistamines.
renal failure
CNS stimulants-------
amphetamine ,
Miscellaneous
metylphenidate, pemoline.
Cerebral palsy, head
Dopamine agonists--- levodopa,
trauma, BPD(infantile
pergolide, lithium, oral
chorea), CABG—
contraceptives
postpump chorea
Neoplastic
Endocrine
Primary and metastatic
Hyperthyroidism
brain
Chorea gravidarum
brain tumors
Hypoparathyroidism,
Primary CNS lymphoma
Pseudohypoparathyroidism
Nutritional
Immune infections
Vit B12 deficiency in
Sydenham chorea
infants
SLE
Bechet
Toxins
Pertussis,diptheria, varicella
Carbon monoxide,
Primary APLA syndrome
manganese, OPC.
Bacterial endocarditis
HSV encephalitis, HIV, infectious
mononucleosis, lyme,
mycoplasma,
viral meningoencephalitis
(mumps,measles, varicella)
27
 HYDROCEPHALUS
Hydrocephalus represents a diverse group of conditions that result from impaired
circulation and absorption of CSF or in rare circumstance from increased production by a
choroids plexus papilloma.
Name Age Sex Consanguinity Handedness
Chief Complaints :
 History of progressive enlargement of head/large head noticed since
.
 History s/o raised ICT (if the onset of hydrocephalus is more than 2 yrs)
 H/O abnormal eye movements (sunsetting / roving eye movements)
O.D.P.-Details of chief complaints
Abnormalities of higher functions - scholastic backwardness, altered sensorium ,
convulsions
History s/o cranial nerve palsy –diplopia sunsetting.
History of blindness or hearing disturbance.
History of focal neurologic deficit.
H/S/O gait abnormalities (spastic gait with frequent falls)
History of bladder/bowel complaints
H/o involuntary movements
History of nausea/vomiting/head banging/headache.
History of occipital enlargement (Dandy Walker)
History of poor feeding/failure to thrive / stridor (nasal encephalocele)

Etiological History
ANTENATAL HISTORY -Infection (CMV , toxoplasma , mumps) ,Drugs-(vitamin A
toxicity-pseudo tumor) , Irradiation , Antenatal detection , presentation
BIRTH HISTORY - Prematurity /Dystocia / PROM / Instrumentation
POST NATAL HISTORY – enquire - H /O trauma , H /O infection (meningitis) , H/O
Koch’s contact , H/o prolonged hospitalization after birth, H/O hypo pigmented macule
with infantile Spasm ( Tuberous sclerosis) , H/O swelling at the back & limb weakness
FAMILY HISTORY- In males Congenital aqueductal stenosis (XLR) ,
Any sibs having similar problem?
TREATMENT HISTORY – H/o treatment taken/shunt surgery
MILESTONES – delay OR regression?
Motor and mental milestones delayed. Weak head holding due to large head.
If there is neuroregression with large head then S/O ( Krabbe/Tay sachs,,
Alexander/Canavan , Post TBM )
Diet history & Socioeconomic history.

28
EXAMINATION
Vitals- BP (hypertension because of raised ICT)
Bradycardia
Shallow respiration
Antropometry with interpretation.
Skull-a) Head circumference & Shape of the skull noted.- in terms of AP diameter,
Biparietal diameter, Frontal bossing& Occipital prominence.
b) Presence of dilated veins
c) Anterior & posterior fontanelle-(note their size, shape, borders, pulsation,
tension in sitting & supine position)
d) Sutural separation
e) Transillumination-more than 2 cm in frontal & more than 1 cm in
Occipital (it is positive only if the cerebral mantle is less than 1cm).It is positive
in massive dilatation of the ventricular system or in Dandy Walker syndrome.
f) Bruit over the head-It is positive in many cases of vein of Galen AV
malformation.
g) Prominent occiput in Dandy Walker/post fossa tumor/arachnoid cyst
h) Flat occiput in achondroplasia/Arnold Chiary Malformation
i) Craniotabes
Sunsetting (paralysis of upward gaze)
Spine-Neural tube defects. Look for tuft of hair
Others-
Neurocutaneous markers-Hypo pigmented patches in Tuberous Sclerosis
Dysmorphic features/ coarse features.
Rhizomelic shortening (achondroplasia)
IU infection (Rash/lymphadenopathy/Hepatosplenomegaly/Cataracts)
Crackpot sign.
CNS Examination-
Higher functions – sensorium , speech
Cranial nerves-Sixth nerve palsy,false localizing sign.
Vision & hearing
Motor -Spasticity is generally more in the lower limb than the upper limb.
Brisk jerks in the lower limb.
Gait-Truncal ataxia is seen in Dandy Walker.
Fundus-Papilledema , Optic atrophy , Chorioretinitis , Cherry red spot
Neonatal reflexes.
Examination of spine
Shunt side, patency , Reservoir present or absent?

INVESTIGATIONS-
X-Ray skull-Calcification/sutural seperation/lacunar skull (Arnold Chiari Malformation-II)
USG skull –If the V/P ratio is more than0.33 then s/o hydrocephalus
C.T & MRI (to find the cause)
29
Intracranial CSF pressure monitoring
Others-EEG (If associated with convulsions) , Lumbar puncture ,Slit lamp examination
Angiography –To look for aneurysm of vein of Galen
To monitor complications- Hb, CBC, Urine, Lumbar puncture to rule out shunt infection

DIAGNOSIS----------months/years old child with progressive ,gradual enlargement of the

head with s/o raised ICT with/without other deficits, the mental age of the child being------
,motor age being---------Diagnosis being Hydrocephalus most probably due to -------(D/D
of hydrocephalus)

Some important points to remember in examination:

1) Measure the head circumference until a constant result around the largest diameter is
obtained
2) Take the parents head circumference.
3) Request the progressive percentiles of the child.
4) Examine the back to avoid missing spinal dysraphism.
5) Examine the lower limbs before the upper limbs because the lower limbs are affected
first in hydrocephalus as the tracts supplying them run closer to the ventricles.
6) Examine the eye movements-Lateral rectus palsy because of raised intracranial
tension/Upward gaze palsy.
Always look for the following effects of Hydrocephalus-
1) Motor-Focal deficits may be present in the opposite limb when Hydrocephalus is
associated with porencephalic cyst.
2) Eyes-Squints decreased pupillary light reflex, horizontal nystagmus, and cortical
blindness.
3) Endocrine-Precocious puberty/Delayed puberty, Short stature, Hypothyroidism,
hypopituitarism.
4) Tremors-S/O Cerebellar herniation
5) Stridor with laryngeal palsy-It is due to coning esp. when associated with Myelocele.

DIFFERENTIAL DIAGNOSIS OF HYDROCEPHALUS

1) Thickened cranium secondary to chronic anaemia, rickets, osteogenesis imperfecta
& epiphyseal dysplasia.
2) Chronic subdural collection
3) Megalencephaly due to storage of abnormal substances within the brain
parenchyma. It is seen in storage disorders/metabolic disorders/ neurocutaneous
syndromes. Neurofibromatosis & cerebral gigantism are characterized by an
increase in brain mass.
5) Familial megalencephaly
6) Hydrencephaly

30
 MENINGOMYELOCELE
The term spinal dysraphism indicates Neural tube defect whereas the term
myelodysplasia indicates spinal cord malformation About 75% of patients with
meningomyelocele have hydrocephalus whereas patients with only meningocele rarely
have hydrocephalus.
The causes of hydrocephalus in MMC are- Meningitis
-Type II Arnold Chiary malformation
-Aqueductal stenosis
Name Age Sex Consanguinity Handedness
Chief Complaints :
Fluid filled swelling in the back with /without CSF leak
Convulsions / tonic spasms
Para paresis/Paraplegia
ODP of chief complaints
H/O weakness in the lower limbs
H/O muscle wasting
H/O involuntary movements /fasciculations
H/O sensory symptoms
H/O bladder /bowel involvement (retension / incontinence)
H/O Cranial nerve involvement
History of complications
H/o of CSF leak
H/o signs of raised ICT-vomiting/convulsions/increasing head
Circumference /altered sensorium
H/O infection-Fever/ Convulsions/Altered sensorium
H/O Bladder/Bowel involvement
H/O rupture of sac during birth process
ANTENATAL HISTORY-
 H/O Maternal malnutrition-s/o folic acid deficiency
 H/O drug ingestion during pregnancy -Thalidomide/valparin/ phenytoin
 H/O hair loss /Skin lesions ,s/o zinc deficiency
 H/o alcohol ingestion during pregnancy
 H/o polyhydramnios
 H/o X-Ray/ irradiation during pregnancy
 H/o maternal Diabetes Mellitus
 H/O fever/rash/ lymphadenopathy during pregnancy(s/o IU infection)
PREVIOUS OBSTETRIC HISTORY
 H/O previous fetal death
 H/O repeated abortions
 H/O mental retardation/other congenital anomalies
FAMILY HISTORY
H/O other siblings affected with similar complaints
31
EXAMINATION
A) General Physical Examination
 Vitals
 Pallor/Icterus/ Lymphadenopathy
 Anthropometry with interpretation
 Skull Examination-
 Headcircumference/transillumination/fontenelles/separation of
sutures.
 Eyes –Look for conjugate movements of eyes
 Neurocutaneous markers
B) Examination of the back
 Location, size & shape of the defect
 Leakage from the sac
Curvature of the spine/bony gibbus underlying the defect
C) CNS Examination-
Higher functions
 Spontaneous activity
 Cry/Tone/ Reflexes
 Response to sensory stimuli in all extremities
 Motor activity esp. in the lower limbs
 Examination of the Cranial nerves
 Anal reflex-May or may not be present depending on the level of lesion.
 Wasting of muscles
 Look for CDH & CTEV
D) CVS Examination-Rule out congenital heart disease
E) Abdomen-Rule out renal malformation.
INVESTIGATIONS
1) Routine investigations
2) X-Ray-Chest
-Spine
-Pelvic Joints
3) CT Scan Brain
4) MRI-If suspecting posterior fossa tumor& syringomyelia
5) Tests of Renal Functions-Urodynamic studies
-IVP
-USG of urinary tract
-MCU
6) Tests of vision & hearing
NEUROLOGIC SYNDROMES IN MMC
A) Above L3-Complete paraplegia
-Dermatomal anesthesia
-Bladder & bowel incontinence

32
B) L4 & Below-Same as for above L3 except for the preservation of hip
Flexors, hip adductors& knee extensors
-The child is ambulatory with aids, bracing or surgery
C) S1 & Below-Same as for L4 & below except for preservation of feet dorsiflexors &
partial preservation of hip extensors & knee flexors
-The child is ambulatory with minimal aids.
D) S3 & below-Normal lower extremity motor function
-Saddle Anesthesia
-Variable bladder-rectal incontinence.

33
 APPROACH TO PARAPLEGIA
Before considering approach to paraplegia let us see the anatomic considerations:-
A disparity exists between vertebral and segmental spinal cord(s.c.) levels that changes
with age. Early in fetal life the s.c. extends through out the bony vertebral column, but
during later development vertebral column becomes longer than s.c. so that the caudal
end comes to lie at level L2 at birth and in adulthood at L1 ;the lowest part being conus
medullaris.Below L1 are only lumbosacral roots –the cauda equina. White matter tracks
contain ascending sensory and descending motor pathways are located peripherally,
whereas nerve cell bodies are clustered in inner region shaped like a clover leaf. S.C.
contains 31 segments each containing exiting ventral motor root and entering dorsal
sensory root (31 pairs of spinal nerves=8 cervical,12 thoracic, 5 lumbar,5 sacral, 1
coccygeal.).
The approximate relationship between S.C.segments and corresponding vertebral bodies
is as shown which is helpful in localising lesions in S.C. compression.
Spinal cord level Corresponding vertebral body
Upper cervical Same as cord level
Lower cervical 1 level higher
Upper thoracic 2 levels higher
Lower thoracic 2-3 levels higher
Lumbar T 10-12
Sacral T 12- L1
Coccygeal L1
Vascular supply of S.C.:The anterior and posterior spinal arteries(S.A.) arise from the
vertebral arteries and travel caudally,the former in antero median fissure and the two later
along side the posterior nerve roots. These long vessels receive tributaries from the
intercostals and lumbar arteries at each spinal level.In the lumbar region one prominent
artery-Adamkiewicz is an important tributary.The ant.S.A. supplies most of the S.C.;only
the post. Parts of the post.horns and post.columns are supplied by the post. Spinal
arteries.Both ant.and post. S.A.function as anastomotic vessels linking radicular feeding
vessels.Flow may thus vary in different directions.There are two zones of watershed flow
in the cord ,one in upper thoracic between flow descending from the vertebral circulation
and flow derived from thoracic radicular feeding vessels,and other in lower thoracic region
between descending flow derived from thoracic feeding vessels and ascending flow from
artery of Adamkiewicz.These are sites of prediliction for infarction of the S.C.
Approach :
What are the presenting complaints:
Partial or complete weakness of both the legs: most commonly as result of an intraspinal
lesion at or below the upper thoracic spinal cord level or because of peripheral nerve
disease.
Is it acute or slowly progressive?

34
Acute Slowly progressive
Trauma Adrenomyeloneuropathy
Concussion , Epidural hematoma , , Fracture Congenital malformations
dislocation , Cord transaction A-V malformations , Arachnoid cysts ,
Transverse myelitis Caudal regression syndrome , Dysraphic
Devics disease , Encephalomyelitis states (Chiari Malformation,
Idiopathic myelomeningocoele , tethered spinal cord,
Syringomyelia
Discitis
Epidural abscess Familial spastic papaplegia
Herpes zoster myelitis Autosomal recessive / Auto. dominant /
Infarction of spinal cord X -linked
Cardiogenic emboli , Hypotension Infections
Vasculitis & Surgeries on aorta T.B. osteomyelitis
Hematomyelia Tumours
Bleeding disorders , Vasculitis, Trauma Extradural(neuroblastoma)
Intraparenchymal vascular Intradural(meningioma,neurofibroma )
malformations Intramedullary(ependymoma)
Extrinsic compression
Hemorrhage into subdural/epidural space
Polyradiculoneuropathy
Symptoms/-ve history that can give clue to diagnosis:
Clumsiness of gait--------------slowly progressive disorder
Refusal to stand/walk-----------acute process
Abnormal skin over spine(tuft of hair, pigmentation, sinus opening,mass)-----spinal
dysraphism
Foot deformities,stunted growth of limbs----Lower spinal cord dysfunction,tethered
cord,caudal regression syndrome
Bowel/bladder control disturbance
Ask following questions:
Is there any sense of bladder filling?
Can the patient feel the urine passing?
Can the patient stop urine passing at will?
Is there associated rectal disorder?
Is there any numbness in perineum?
Answers to above can identify following bladder problems and possible lesions
Uninhibited bladder(urgency at low bladder volume,sudden uncontrolled evacuation,no
residual urine)-----parasaggital lesions
Spinal bladder (bladder fullness not appreciated,it empties suddenly and reflexly,
incomplete evacuation,spastic bladder holding small volume urine)----spinal cord
lesion,conus lesion
Autonomous bladder(continuous dribbling incontinence,considerable residual urine
which may cause UTI,no sensation of bladder fullness,perineal numbness)---cauda
equina lesion
 Seizures,drowsiness,enlarging head,apnea,abnormal respiration----- lesion above
spinal cord like Ant cerebral artery ischaemia, parasaggital meningiomas,superior

35
 sagittal sinus thrombosis, hydrocephalus(Chiari malformation),diffuse
encephalomyelitis
 History of diarrhoea/viral upper respiratory illness prior to weakness----acute
demyelinating neuropathy
 Trauma to spinal cord---conditions as described above in aetiology
 Easy fatiguability, vomiting ,diarrhoea, failure to thrive, hyperpigmentation of skin---
-adrenomyeloneuropathy
 Fever,viral illness prior to weakness, vaccination history-----transverse myelitis
Vision loss-----Devic’s disease
 Family history of progressive lower limb weakness, toe walking in child progressing
to gradual weakness of lower limbs-----Familial spastic paraplegia
 High grade fever , back pain-------discitis
 History of root irritation---radiating pain on coughing/bending back--epidural lesions
 Rash on skin dermatomal pattern----herpes zoster myelitis
 H/o suggestive of immunosuppression -recurrent diarrhoea/ LRTIs/AIDS myelitis
 Long standing fever,chronic cough, family h/o kochs, back pain,refusal to walk----
TB osteomyelitis
 Birth history of prematurity-----------spastic diplegia
 Limpness of lower extremity acutely------GBS,Transverse myelitis
 Chronic back pain, no fever--------arachnoid cysts,AV malformations
 Butterfly rash on face-----SLE
 Umbilical artery catheterization-----neonatal cord infarction
Examination of CNS
Scoliosis: Spinal cord disorders like neural tube defects,spinal cord tumours,degenerative
spinal disorders,neuromuscular disease
Higher function: Sensorium impaired in encephalomyelitis
Cranial nerves: VII commonly in GBS,II in Devics disease
Difference between S.C. and peripheral nerve lesions:
Spinal cord involvement Peripheral nerve involvement
Spasticity Symmetrical distal weakness and wasting
Dermatomal sensory loss Symmetrical distal sensory impairement
Exaggerated reflexes(except spinal shock) Loss of tendon reflexes
Level of lesion: Superficial reflexes of spinal origin for localization
Reflex Level of cord concerned
Anal S3,4
Bulbocavernosus S3, 4
Plantar S1
Cremasteric L1,2
Abdominal T7-12
The level below which sensory,motor,&/or autonomic function is disturbed is a hallmark of
S.C. disease. In general a sensory level to pinprick or temperature,indicating damage to
the spinothalamic tract,is located 1-2 segments below the actual level of a unilateral
spinal cord lesion,but it may be at the level of the lesion when bilateral.That is because
36
sensory fibres enter cord at dorsal root,synapse in dorsal horn,and then ascend
ipsilaterally for several segments before crossing just anterior to central canal to join
opposite spinothalamic tract.
Lesions that disrupt descending corticospinal and bulbospinal tracts cause paraplegia or
quadruplegia,with increasd muscle tone,exaggerated deep tendon reflexes(DTR) and
extensor planter signs.Such lesions also typically produce autonomic disturbances,with
disturbed sweating and bowel bladder disturbances.A sweat level may be determined by
drawing a spoon up the torso,there will be little resistance to movement of the spoon
along the dry,non sweating skin;at the level at which sweating begins,resistance will
suddenly increase.
The uppermost level of spinal cord lesion is often localized by attention to segmental
signs corresponding to disturbed motor or sensory innervation by an individual cord
segment.A band of altered sensation (hyperalgesia/pathia) at the upper end of the
sensory disturbance,fasciculations or atrophy in muscles innervated by one or several
segments ,or a single diminished or absent DTR may be noted. These signs may also
occur with focal root or peripheral nerve disorders;thus,segmental signs are most useful
when they occur with other signs of cord disease.
With severe and acute transeverse lesions ,there may be flaccidity of limbs rather than
spasticity (so-called spinal shock)This may last for several days ,rarely for weeks and
may be initially mistaken for extensive damage to spinal cord or polyneuropathy.
Spinal myoclonus:- Brief ,irregular contractions of small muscle groups due to irritation to
pools of motor neurons & interneurons due to syrinx or intramedullary
tumour.Dermatomal distribution shows site of irritation in spinal cord
Patterns of Spinal cord.disease:
Most fiber tracts-including the post.columns and the spinocerebellar and pyramidal tracts
–travel ipsilateral to the side of the body they innervate. Afferent fibers carrying pain and
temp. sensation ascend contralaterally as spinothalamic tract. The anatomic relationships
produce distinctive clinical syndromes.
Brown –Sequard hemicord syn.:-Ipsilateral weakness(pyramidal tract) and loss of joint
position and vibratory sense (post column),with contralateral loss of pain and temp.
sense(spinothalamic tract) below the lesion.The sensory level for pain and temp. is1-2
levels below the lesion. Segmental signs , like radicular pain ,muscle atrophy or loss of
DTR ,when occur are unilateral. Bilateral hemicord lesions are more common.
Central cord syndrome:It results from disorders of gray matter nerve cells and crossing
spinothalamic tracts near the central canal.In cervical cord it produces arm weakness out
of proportion to leg weakness and dissociated sensory loss consisting of loss of pain and
temp. in cape distribution over shoulders ,lower neck and upper trunk with intact light
touch ,joint posn and vibration. Common causes are trauma , syringomyelia,tumours and
ant. Spinal artery ischaemia.
Ant.2/3rd syndrome:-Due to bilateral extensive disease of S.C. that spares post
columns.All S.C. functions-motor ,sensory and autonomic-are lost below the level of
lesion,with the striking exception of intact vibration and position sensation.Etiology is
vascular –thromboembolism of ant. Spinal artery.
37
Intramedullary and extramedullary syndromes:
Distinguishing features are relative and serve as rough guides to clinical decision making:
Intrinsic disease Extrinsic disease
Urge incontinence/retention of urine Root pain,worse on movement
Dissociated sensory loss Early sacral sensory loss
Spinothalamic pain Progressive asymmetric spastic paraplegia
Bilateral corticospinal tract signs(late appearance) Brown –Sequard syndrome
Paraplegia and sensory level Paraplegia with sensory level
Sensation in perineal & sacral area spared Incontinance/retention of urine and faeces
Specific localizing signs:
Thoracic cord:-Lesions are best localized by identification of sensory level on the
trunk.Sensory dermatomes of the body are shown in fig.2,useful markers are at
nipples(T4) and umbilicus(T10).Weakness of legs and disturbances of bladder ,bowel
function may accompany.Abdominal wall musculature,supplied by lower thoracic cord , is
observed during movements of respiration or coughing or by asking patient to interlock
fingers behind the head in supine posn and attempt to sit up.Lesions at T9-T10 paralyse
the lower ,but spare the upper abdominal muscles resulting in upward movement of
umbilicus( Beevor’s sign) and loss of lower but not upper superficial abdominal
reflexes.Midline backpain is a useful localizing sign in the thoracic region.
Lumbar cord:Lumbar and sacral cord segments progressively decrease in size ,focal
lesions of these segments are less easily localized than in cervical and thoracic regions.
Lesion at L2-L4 paralyse flexion and adduction of the thigh,weaken leg extension at knee
and abolish patellar reflex.Lesions at L5-S1 paralyse movements of foot and ankle,flexion
at knee and extension of thigh and abolish ankle jerk(S1).Cremasteric reflex(L1-
L2)localizes lumbar cord disease.
Sacral cord/conus medullaris
Isolated lesions of conus spare motor and reflex functions in the legs.Conus syndrome is
distinctive-Bilateral saddle anesthesia(S3-S5),prominent bowel and bladder dysfunction
(urinary retention and incontinence with lax anal tone).Bulbocavernosus (S2-S4) and anal
(S4-5) reflexes are absent.Muscle strength is largely preserved.
Cauda equina lesions are characterized by severe low back or radicular pain, asymmetric
leg weakness or sensory loss , variable areflexia in lower extremities , and relative
sparing of bowel and bladder functions.Mass lesions in lower spinal canal may produce
mixed clinical picture-cauda and conus syndromes

38
 Guillian Barre Syndrome
It is an important cause of acute flaccid paralysis (AFP)–a collection of clinical syndromes
manifested by an acute inflammatory polyradiculopathy with resultant weakness and
reflex changes.
Name Age Sex Consanguinity Handedness
Chief complaint
History of weakness in limbs-AFP which is acute onset of flaccid paralysis (<2 months)
 Unilateral /Bilateral weakness of limbs
 Bilaterally symmetrical or asymmetrical weakness
 Where does it start:From lower limbs and progresses upwards or vice versa
 Sudden or insidious onset
 Proximal or distal weakness
 Involvement of upper or lower limb
 Involvement of respiratory muscles: anxious expression, difficulty in breathing,
inability to speak without frequent pauses
 Involvement of bulbar muscles-pooling of secretions in mouth, nasal
regurgitation/nasal twang, dysphagia,dysarthria
Associated history/-ve history:
Higher function abnormalities (sensorium, speech)
Cranial nerve deficit: facial asymmetry,drooling saliva from angle of mouth(VII N);
nasal twang,regurgitation(IX,X N),diplopia,eye movements(III,IV,VI N)
Sensory disturbances-tingling numbness, pain.
Abnormal gait / posture( tripod sign)
Bladder/bowel disturbance
Autonomic disturbances:flushing,sweating ,palpitations, postural hypotension
Ataxia ,involuntary movements
Wasting of muscles
H/S/O increased intracranial pressure
Etiological history:
Diarrhoeal /upper respiratory illness weeks prior to paralysis----GBS
Immunisation -OPV, IM injection & fever prior to paralysis –(-Polio )
Paralysis early morning after food ingestion,previous history or familial history of
paralysis----Periodic papalysis
Throat pain ,dysphagia,neck swelling(bull neck)---Diptheria
Consumption of honey/tinned food ( botulism)
H/O drug intake – vincristine , vinblastine
H/O pica (heavy metal intoxication (lead))
H/O trauma to spine
H/O polyuria / polydipsia / weight loss (DM)
H/O fever with exanthem(herpes, mumps , rubella, entero/ EBV)H/O pain swelling
Birth, Immunisation history (especially OPV),
Developmental, dietary history
Examination:
Decubitus especially of lower limbs—Demonstate flaccidity
Vital parameters: Heart rate,Blood pressure for autonomic dysfunction
Throat---patch for diptheria

39
Anthropometry with interpretation
Blue line on gums NC markers
Spine
CNS
Drooping of shoulder s/o diaphragmatic paralysis
Fasciculations
Thickened nerves
Reflexes Superficial – important as in case of transverse myelitis for level of the
lesion
 Signs of meningeal irritation
Features suggestive of GBS are
 Ascending weakness,symmetrical involvement
 Lower limbs involved before upper limbs
 Proximal involvement earlier than distal
 Weakness progressing over days to weeks with peak maximally at 4 weeks
 Deep tendon reflexes absent even before paralysis.
 Cranial nerves: common VII nerve
 If abnormal gait(ataxia) with eye movements impaired(opthalmoplegia)---Miller
Fischer variant
 Bladder distension
Other variants:
 The acute motor axonal neuropathy (AMAN) variant has pure motor symptoms -
very similar clinical presentation to patients with the demyelinating form of GBS
with ascending symmetric paralysis.
 The axonal form of GBS, also referred to as acute motor-sensory axonal
neuropathy (AMSAN), often presents with rapid and severe paralysis with delayed
and poorer recovery .
 A pure sensory variant of GBS , typified by rapid onset of sensory loss and
areflexia in a symmetric and widespread pattern.
 Acute pandysautonomia without significant motor or sensory involvement is a rare
presentation of GBS. Dysfunction of the sympathetic and parasympathetic systems
results in severe postural hypotension, bowel and bladder retention, anhidrosis,
decreased salivation and lacrimation, and pupillary abnormalities.
 The pharyngeal-cervical-brachial variant is distinguished by isolated facial,
oropharyngeal, cervical, and upper limb weakness without lower limb involvement.
Other variants with restricted patterns of weakness -are rare
Respiratory system
Involvement of respiratory muscles: increased respiratory rate , movements of alae
nasi and other accessory muscles of respiration , inability to cough or sniff with full
depth ,Single breath count .Paradoxical abdominal movements due to diaphragmatic
immobility .Deltoid paralysis suggests impending respiratory paralysis
Observation of patient’s capacity for thoracic breathing while abdominal muscles are
splinted manually
Light manual splinting of thoracic cage helps assessment of diaphragmatic movts.
PA see for phantom hernia on abdominal wall ( polio)
CVS muffled heart sounds (viral myocarditis, diphtheria)
Diagnosis …..yr old male/female with H/o acute onset progressive / non progressive
flaccid weakness with/ without central signs , with/ without signs of meningeal irritation
with/ without respiratory embarrassment most probably --------

40
Differential diagnosis of GBS - shown in the table below

Polio Guillain-Barré Traumatic neuritis Transverse myelitis

syndrome

Installation of 24 to 48 hours onset to From hours to 10 days From hours to 4 days From hours to 4 days
paralysis full paralysis

Fever at onset High, always present Not common Commonly present before, Rarely present
at onset of flaccid during and after flaccid
paralysis, gone the paralysis
following day

Flaccid paralysis Acute, usually Generally acute, Asymmetrical, acute and Acute, lower limbs, symmetrical
asymmetrical, symmetrical and distal affecting only one limb
principally proximal

Muscle tone Reduced or absent in Global hypotonia Reduced or absent in Acute, lower limbs, symmetrical
affected limb affected limb

Sensation Decreased to absent Globally absent Decreased to absent Absent in lower limbs early
hyperreflexia late

Deep-tendon Severe myalgia, Cramps, tingling, Pain in gluteus, hypothermia Anesthesia of lower limbs with
reflexes backache, no sensory hypoanaesthesia of sensory level
changes palms and soles

Cranial nerve Only when bulbar Often present, affecting Absent Absent
involvement involvement is present nerves VII, IX, X, XI, XII

Respiratory Only when bulbar In severe cases, Absent Sometimes

insufficiency involvement is present enhanced by bacterial
pneumonia

Autonomic signs Rare Frequent blood pressure Hypothermia in affected limb Present
& symptoms alterations, sweating,
blushing and body
temperature fluctuations

Cerebrospinal Inflammatory Albumin-cytologic Normal Normal or mild in cells

fluid dissociation

Bladder Absent Transient Never Present

dysfunction

Nerve conduction Abnormal: anterior Abnormal: slowed Abnormal: axonal damage Normal or abnormal, no
velocity: third horn cell disease conduction, decreased diagnostic value
week (normal during the first motor amplitudes
2 weeks)

EMG at three Abnormal Normal Normal Normal

weeks

Sequelae at three Severe, asymmetrical Symmetrical atrophy of Moderate atrophy, only in Flaccid diplegia atrophy after
months and up to atrophy, skeletal distal muscles affected lower limb years
a year deformities developing
later

41
 PSYCHOMOTOR REGRESSION
Name : Age : Sex : Informant: Consanguinity Handedness Community -
Chief complaints :-
- loss of achieved mile stones
- convulsions
- progressive increase in size of head
- vision / hearing / speech regression
Narrative History :-
1] Convulsions :- generalised tonic, clonic, myoclonic, tonic spasms, focal
- (convulsions suggest that the disease involves grey matter
degeneration
eg, Alper poliodystrophy, Neuronal ceroid Lipofuschinosis )
- In certain epilepsy syndromes, convulsions are the hallmark which
precede the onset of regression.
e.g. West Syndrome - Infantile spasms - Lennaux Gestaut syndrome -
tonic spasms .
Certain aminoacidopathies& organic acidurias patients / urea cycle
defects convulsions may be due to metabolic disturbances like
hypoglycemia, hyperammonemia etc )
- SSPE - Myoclonic jerks
2] Progressive dementia / personality changes-
- Scholastic backwardness - SSPE, HIV, encephalopathy
Wilson’s disease.
- Behavioural changes - hyperactivity - sanfillipo, X linked ALD,
- Autistic behavioural - Autism, Rett's Syndrome
3] Loss of motor milestones - eg. loss of head control, turning over.
Period over which these milestones are lost in important.
Progressive - Neuro degenerative disorders
Sudden - Post encephalitis
- Mitochondrial disorders like MELAS
White matter degeneration is characterised by focal neurological deficits /
spasticity / blindness or hypotonia (looseness of body).
4) Progressive disturbance of gait and co-ordination
- X linked Adrenoleuko dystrophy
- Progressive hydrocephalus
Focal neurological deficits - mitochondrial disorders
5] Vision problems :
1] Progressive loss of vision hydrocephalus, Tay sachs disease
Neuronal ceroid hipofuschinosis,
Wilson's disease ( Cataract)
2] Visual inattention - autistic spectrum disorders, Rett's syndrome

42
6] Speech abnormalities - Aphasia -
expressive aphasia - Rett / autism
Dysarthria - cerebellar disorders ( Juvenile MLD)
7] Ataxia - MLD, ALD, Spasms nutan - pelizeus merchbacker
8] Involuntary Movements -
Chorea, athetosis - Huntington , Wilson, pelizeus merchbacker
Dystonia / Dyskinesis -
Hand wringing, washing, tapping movement
Sterotypy - Rett's syndrome
9] Akinesia - Leigtis encephalomyelopathy, parkinsonian features
H/o. complication - contractures / bedsore Repeated infections
10] Increasing head size - progressive hydrocephalus, Alexander / Canavan
11] Sensory disturbances - trophic ulcers
associated with peripharal neuropathy - MLD, INAD, krabbes
12] Progressive bulbar symptoms - feeding difficulties
13] H/o. Repeated vomiting, failure to thrive - neurometabolic disturbances
aminoacidopathies / organic acidemias
14] H/o. fever,, altered sensorium / convulsions  Encephalitis
H/o. lethargy, constipation, neck swelling hypothyroidism.
15] H/o. Jaundice - Wilson's
16] H/o. Measles - SSPE
17] H/o. Self mutilation Lesch nyhan syndrome
18] Family history of similor illness in other sib / sib death
19] H/o. Breathing abnormalities
20] Birth history
21] H/o. typical body / urine adore
22]H/o. complication - contractures / bedsore Repeated infections
23] Developmental history - Details of milestones - normal / delayed prior to
onset of regression.
24] Diet history
25] Immunisation history
EXAMINATION
General examination
Decubitus
Temp. Pulse respiration BP
Anthropometry with interpretation
- size & shape of skull - overriding of sutures
- Anterior fontanelle
- Dysmorphic features - Grotesque features, Hypothyroid / MPS
- NC markers - Tuberous sclerosis, ataxia telengiectasia, café au lait spots
Chediac Higashi
- Skin changes - Hypothyroidism - Xerodema pigmentosa
- Hair - menke's kinky hair
43
 - Trophic ulcers - (peripharal neuropathy)
- Self mutilation - Lesch nyhan
Fundus :- optic atrophy
Cherry red spot
Retinitis pigmentosa
Central nervous system Examination -
PA - organomegaly
Diagnosis:
__________year M/F_____, BO_______ Marriage ______ of ________community,
with acute / insiduous onset of regression of motor / mental milestones with visual
/hearing impairment, with spasticity / hypotonia, with micro/macrocephaly, with seizures
with/without abnormal movement with/without
HS megaly suggesting involvement of grey/white matter, most probable
Differential diagnosis ….

NEUROREGRESSION
 A neurodegenerative disease is defined as any disorder in which a patient sustains a
loss of previously acquired developmental milestones, or a decreased velocity of
acquired development.
History
Most important aspect
 Genetics and involved members
 Early milestones achieved normally or delay from onset?
 History of early features of regression
 How has it progressed?
 Associated features - seizures, skin lesions.
Is it predominantly white or grey matter involvement ?
Inheritance
Is it neuroregression?
White vs Grey matter involvement
Mainly myelin tracts involved Mainly neurons involved
 Loss of motor skills Seizures
 Spasticity Intellectual changes
 Ataxia Visual loss
Seizures
 Type depends on maturity, location and nature of causative lesion
 Newborn - multifocal clonic, tonic
 2-12 mths - infantile spasms
 1-2 years - minor motor sz of akinetic, myoclonic type
 3-5 yrs - typical and atypical absences polymyoclonus, GTCs.
Predominant neurological abnormality
 Predominant abnormalities - correlate quite well with pathology
 Motor loss, visual loss-white matter
44
 Seizures, intellectual and behavioural changes-grey matter
 Chorea, dystonia, tremor, rigidity, ballismus-basal ganglia
 Ataxia, unsteady gait, hypotonia-cerebellum
 Depressed reflexes-peripheral neuropathy
Grey Matter Involvement
 Poliodystrophies / Alpers disease
Progressive neuronal degeneration of childhood with hepatic involvement
Ceroid Lipofuscinosis (NCL/Battens disease)
Infantile - Santovuori - Hagberg
Late infantile - Jansky - Bielschowski
Juvenile - Spielmeyer - Vogt
Adult - Kufs
 Menkes Kinky hair disease
 Retts syndrome.
Basal Ganglia Involvement
 Heredodegenerative
 Hallervorden Spartz disease
 Idopathic torsion dystonia
 Ataxia telangiectasia
 Pelizaeus Merzbacher disease
 Huntingtons disease
 Neuroaxonal dystrophy (infantile tyype)
Cerebellar Involvement
Metabolic causes:
 Adrenomyeloneuropathy
 GM1 and GM2 gangliosidosis
 Refsums disease
Hereditary Spinocerebellar ataxias
 Autosomal recessive - Freiderichs ataxia , Autosomal dominant & X linked cerebellar
ataxia
Metabolic causes :
 Wilsons disease  Homocystinuria
 GM 1 and GM 2 gangliosidosis  Methylmalonic and Propionic aciduria
 Metachromatic leucodystrophy  Glutaric aciduria
 Ceroid lipofuscinosis  Mitochondrial disorders
 Lesch - Nyhan syndrome Infective causes; SSPE
Others
 Alpers disease
 HIV encepalopathy
 Pelizaeus Merzbacher disease
 Ataxia Telangiectasia
 Myoclonus Opsoclonus
45
 SSPE
Examination:
Skin and hair
 Menkes - pili torti
 Ataxia Telengiectasia - ears, eyes, eyes, side of nose
 Farbers - subcut nodules, swollen joints, dysphonia
Optic atrophy Cherry Red Spot:
 PMD Mucolipidosis
 Neuroaxonal dystrophy Tay Sachs disease
 Spongy degeneration Sandoffis disease
 Juvenile Gauchers Niemann Pick disease
 MPS - Hurler, Hunters
 Frederiech’s ataxia Macular degeneration
 Hallervorden Spatz Hallerverdan Spatz
 Lafora disease Abetalipoproteinemia
 Adrenoleucodystrophy NCL - Late infantile Juvenile
 Krabbes disease Refsums disease
 NCL
Ophthalmology -Disorders with ocular movements
 Ataxia telangiectasia  Frederichs ataxia
 Niemann Pick disease  Abetalipoproteinemia
 Leighs disease  Pelizaeus Merzbacher disease
 Juvenile Gaucher’s  Infantile Gaucher’s

Peripheral Neuropathy
 Krabbes
 Metachromatic Leucodystrophy
 Leighs disease
Hepato splenomegaly
With dysmorphism without dysmorphism
 GM1 Gangliosidosis Niemann-Pick
 MPS Gauchers
 Mucolipidosis Farbers
 Zellweger’s

Head size
Microcephaly Progressively enlarging head
 Alpers Canavans
 Menkes Alexanders
 Krabbes Late state Tay Sachs

46
 MLD Glutaric aciduria
 Retts Vanishing white matter

D/D of Progressive Myoclonic Epilepsy

 Nonketotic hyperglycinemia  Lafora disease

 Neuronal ceroid lipofuscinosis  MELAS
 Alpers  SSPE
 Menkes Myoclonic epilepsy with ragged red fibres

White matter involvement

 Metachromatic leucodystrophy
 Globoid cell (Krabbe's) leucodystrphy
 Adrenoleucodystrophy
 Zellwegers syndrome, neonatal ALD
 Canavan's disease
 Pelizeaus Merzbacher disease
 Alexanders disease
 Leucodystrophy-calcification of basal
ganglia
 Leucodystrophy-vanishing white matter

Investigations
 MRI, MR angiogram, MR spectroscopy
 Ophthal
 ERG,VEP,BERA
 EEG
 EMG/NC
 CSF - lactate,pyruvate,proteins,IgG
 Blood - enzymes,VBG,anion gap amino acids,
VLCFA,Cu,ceruloplasmin
 Urine - organic acids,amino acids.

47
 Approach to a case of Congenital Heart Disease

5 Basic questions to be answered in every case:

is it congenital or acquired?
1) Cyanotic or Acyanotic?
2) Increased Pulmonary Blood Flow / Decreased PBF?
3) Origin of the lesion is in the Right /Left heart?
4) Which is the dominant ventricle?
5) Presence/ absence of Pulmonary Hypertension?

The common cases of Acyanotic Heart lesions with a left to right shunt:
ASD, VSD, PAPVC, PDA, AP-Window, Endocardial Cushion Defect.

Cyanotic lesions:
With Increased PBF: With decreased PBF:

TGA with VSD Pulmonary Atresia with intact

DORV ventricular septum
Truncus Arteriosus Ebstein’s Anomaly
TAPVC Single Ventricle with Pulmonary Stenosis
Single Ventricle Tetralogy of Fallot’s
Common Atrium TGA with PS
Tricuspid Atresia with VSD. DORV with PS.

Conditions with Pulmonary Hypertension :

ASD,VSD, PDA with Eisenmenger’s Complex (reversal of shunt from Right to

Left) , Hypoplastic Left Heart Syndrome, TAPVC with increased
Pulmonary Vascular Resistance.

HISTORY TAKING:
ANTE-NATAL HISTORY:
H/o infections, disease and drugs in the mother.
Infections: Maternal Rubella during the first trimester causes PDA/ PS
CMV, HSV and Coxsackie-B during later trimesters may cause
Neonatal Myocarditis.
Maternal Disease: e.g. Diabetes Mellitus - TGA/Cardiomyopathy.
SLE - Complete Heart Block
Drugs/Medications: e.g. Anticonvulsants –Aortic Stenosis /Pulmonary
Stenosis/ Coarctation of Aorta (CoA)

48
 Alcohol - Septal Defects viz.ASD / VSD.
Lithium – TGA.

NATAL HISTORY:

Birth Weight: If e/o IUGR – R/o Intra-uterine infections.

If e/o LGA – R/o Infant of Diabetic Mother.

POST NATAL HISTORY:

- H/o poor weight gain / Failure to thrive ( weight more affected than height ).
- H/o Poor feeding i.e. suck-rest-suck cycle due to fatigue and dyspnoea due
to increased PBF.
- H/o tachypnoea with/without dyspnoea (which worsens during feeds)
(Sleeping Respiratory rate of > 40 breaths/min).
- H/o periorbital puffiness / edema (s/o systemic venous congestion).
- H/o frequent respiratory tract infections (due to Left to Right shunt with
increased PBF ).
- H/o decreased exercise tolerance (seen with Left to right shunts, cyanotic
lesions, valvular abnormalities and arrhythmias) .
Ask in terms of inability to climb stairs/walk short distances/play outdoor
games as compared to other children of the same age.

HISTORY OF MODES OF PRESENTATION:

1) History of Murmur :
Time of detection – In neonatal age: AS/PS/Small VSD/PDA.
In Early infancy: Large VSD/PDA (after 6-8
weeks i.e. regression of the PVR)
If incidently found during fever/pre-school
evaluation – innocent murmur.
Most common conditions which may present as asymptomatic murmur :
VSD,ASD, PDA, PS, CoA, AS.
2) H/o Cyanosis :
Presenting in the first week of life – (all ‘T’):
TGA, Truncus Arteriosus ,Total AV-Canal Defect ,Total Pulmonary
Atresia , Tricuspid Atresia, Tricuspid Regurgitation with Ebstein’s
anomaly of the Tricuspid Valve.
After first week of life – Tetralogy of Fallot’s, Total Anomalous
Pulmonary Venous Circulation.
3) H/o Cardiac Failure:
First week of life – CoA, Critical Aortic Stenosis,Truncus Arteriosus
and Hypoplastic Left Heart Syndrome.
Early infancy- Large VSD, Common AV-Canal Defect, Large PDA
49
 and TAPVC.
Later age – SVT/Arrhythmias, Myocarditis, Cardiomyopathy.
4) H/o Chest pain : Ask about –
A) Duration of pain.
B) Nature of pain (stabbing/sharp/squeezing).
C) Radiation to other parts of the body (neck, arm, etc).
D) Activity related / at rest.
E) Accompanied by palpitations/syncope/dizziness.
F) Chest trauma in the recent past.

Most common causes of chest pain in children are NON-CARDIAC:

- Pleuritis, Trauma, Costochondritis.
CARDIAC causes of chest pain are:
- Severe AS (usually increases with activity)
- Pulmonary Vascular Obstructive Disease
- Mitral Valve Prolapse (usually with palpitations)
- Pericarditis.
- Kawasaki’s Disease (due to coronary involvement)
- Severe PS.
5) H/o Palpitations: Most common with MVP, SVT, Long QT-
Syndromes.
6) H/o Cyanotic Spells:
Classical: TOF with infundibular spasm.
Ask about –
A) Time of occurrence – common in early morning/ on awakening / post feeds.
B) Duration and Frequency of the spells – for prognosis and early intervention.
C) H/o squatting episodes /knee-chest positions by self.
Breathing rapidly/ no breathing during the spell – to differentiate from Breath
holding spells.
7) H/o Syncope: S/o arrhythmias, MVP, Long QT-syndrome and if
related to exercise- s/o severe AS.
8) H/o Cerebral events viz. Convulsions/Transient Ischemic Attacks/ Strokes:
- Emboli may occur with right to left shunts, Polycythemia and may lead
to cerebral thrombosis and brain abcess.
9) H/o any medications being taken by the child :
Ask about –
Name of the drug, dosage,timing and compliance.
Past admissions to the hospital for cardiac failure /surgery.
10) H/o signs and symptoms of Infective endocarditis viz.
prolonged fever, rash, hematuria, splinter hemorrhages,etc.

FAMILY HISTORY:
1) H/o Congenital Heart Disease in parents/siblings (risk of recurrence).
50
 2) H/o sudden/unexplained death at young age in the family (Long QT-
Syndrome/Cardiomyopathy).
ASSOCIATED SOCIAL HISTORY:
1) Impact of disease on the child : growth, development, academic
performance, sports restrictions, peer attitudes, teacher’s attitude,
amount of school missed .
2) Impact of disease on the parents : financial condition, burden, aid
received from Govt. /NGOs, plans for future pregnancy, genetic
counseling, awareness of risks of recurrence and availability of Fetal
echocardiography.
3) Coping with disease: Parent’s understanding of the disease,
Prognosis, treatment options, antibiotic prophylaxis and signs of
Infective Endocarditis.
4) Immunization status: Especially Measles, Hepatitis-B, Tetanus .

EXAMINATION
Inspection: Look at the WHOLE CHILD.
Estimate the age and growth /general health of the child.
Face:
- R/o dysmorphism: Down’s / Turner’s / Noonhan’s / Marfan’s /William’s /
Cri-du-chat Syndromes .
- Central cyanosis: Best noted in the tongue / perioral area .
- Dental caries: As a risk of infective endocarditis.
- Conjunctival Injection: Seen with e/o increased hematocrit / polycythemia
in Cyanotic Congenital Heart Disease.
Hands / Feet:
- Cyanosis in the nails.
- Clubbing (mention the grade) s/o chronic cyanosis.
- Splinter hemorrhages and Osler’s nodes in Infective endocarditis.
- Feel over the elbows in an hypertensive child to detect tuberous/tendon
Xanthomata to r/o hypercholesterolemia .
Chest:
- Operation Scars.
- Asymmetry of chest: Precordial bulge / chronic cardiomegaly.
- Harrison’s Sulcus: May occur with increased PBF conditions.
Palpation:
Arterial Pulse:
- Check for both radials, brachials and femorals for volume and rhythm.
Look for Radio-Femoral delay (in a c/o CoA).
- If radial pulse not felt: r/o Holt-Oram Syndrome, TAR syndrome.
- If pulses are unequal: r/o ipsilateral BT-shunt, CoA involving the Left
Subclavian Artery.

51
Always measure the Blood Pressure in every case with an appropriate cuff size
(covering at least 2/3rd of the upper arm).
Measure in the right arm and note whether in sitting/sleeping/standing position.
Mean Systolic - 90 + age in years.
Mean Diastolic - 55 + age in years.
Rate: Never guess the rate. Count for 1 full minute.
Normal Range: AGE RATE
0-2 yrs 80-140/min.
2-6 yrs 75-120/min.
> 6 yrs 70-110/min.
If e/o Bradycardia – r/o Drugs (Beta-blockers/Digoxin), Complete Heart
Block, Sinus bradycardia in atheletes.
If e/o Tachycardia – R/o CCF, Tachyarrhythmias or an anxious child.
Rhythm: Regular or Irregular?
- Sinus arrhythmias occurring with respiration is universal in young children.
- If irregularly irregular – r/o Atrial Fibrillations – seen in cases of ASD,
post-atrial surgery, Ebstein’s Anomaly, Mitral Stenosis.
Volume of the pulse:
a) Large volume and rapid collapse: “Water-hammer pulse”
R/o PDA, Aortic Regurgitation.
b) Small volume:
R/o cardiac failure, shock,outflow obstruction viz .Aortic Stenosis,
Pericardial effusion.
c) Normal volume but jerky pulse : Hypertrophic Obstructive
Cardiomyopathy.
ALWAYS feel for the presence of a THRILL in the suprasternal notch to r/o AS.
Measure JVP only in older children which could be elevated in c/o Right heart failure,
Cardiac Tamponade and fluid overload.
Palpation of the Chest:
Apex Beat:
The furthest lateral and inferior position of the cardiac impulse.
- Usually in the 4th intercostal space, in the mid-clavicular line.
- If displaced to the left: r/o cardiomegaly, scoliosis and pectus excavatum..
- If displaced to the right: r/o true dextrocardia /dextro-position of the heart
due to Pulmonary Fibrosis, diaphragmatic hernia.
- Feel for the liver to r/o Situs Inversus / Kartegener’s Syndrome and
hepatomegaly.
Quality:
Well Sustained- Aortic Stenosis.
Forceful- LVH
With systolic thrill at upper left sternal edge- Pulmonary Stenosis.
With Systolic thrill at left lower sternal edge-VSD.
Parasternal Heave-RVH.
52
Thrills:
Localize the site.The murmur is atleast grade IV/VI in intensity.
Palpable 2nd heart sound: s/o Pulmonary Hypertension.
Auscultation:
Check all the 4 areas- Mitral, Tricuspid, Pulmonary and Aortic areas.
Check first and second heart sound.
R/o added sounds like mumur- if present- is it in systole or in diastole?
If e/o systolic murmur- always listen over the carotids to r/o AS.
Auscultate the back- innocent murmurs DO NOT radiate to the back.
Loud first heart sound:-ASD,MS.
Loud second heart sound:
Increased PBF – PDA, ASD, large VSD and PH.
Split second heart sound:
Universal in children and varies with respiration as Aortic closure precedes the Pulmonary
closure.
If fixed split (no change with respiration): ASD.
If widely split: ASD,RBBB and PS.
If single second heart sound: TOF/PS (due to inaudible pulmonary component).
Extra sounds:
3rd sound (early in diastole) – best heard over the apex with the bell, normal in healthy
children and at times with either ventricle failure.
4th sound (late diastole) – NEVER normal, r/o either ventricular failure / PH.
Opening snap (after the 2nd sound and high-pitched) - s/o MS.
Ejection click (after 1st sound and high pitched)- s/o AS/PS.

MURMURS:
Define the following:
- Intensity (grade 1 to 6).
- Where is it loudest?
- Where does it radiate?
- Timing (systolic/diastolic/both)?
- Duration (early systolic/pansystolic)?
- Pitch and quality (blowing/high/low)?
- Does it change with respiration/posture?
Innocent murmurs are: Still’s murmur, Pulmonary Ejection systolic murmur
and Venous hum.

Common conditions with murmurs:

-VSD: PSM at the left sternal edge .If large : mid-diastolic mitral flow murmur.
- PS: ESM at the left 2nd intercostal space.
- ASD: ESM at the Pulmonary area, left 2nd IC space.
- MR: PSM at the apex and left axilla.
53
- PDA: Continuous murmur below the left clavicle and radiates to the back.
- CoA: Continuous murmur at left sternal edge and b/w the scapulae.
-
Investigations:
Arterial Blood Gas/ Pulse oximetry - note the oxygen saturation (cyanotic congenital
heart disease.)
Hyperoxia test will help in distinguishing cardiac Vs Respiratory cause of Cyanosis.
Chest X-Ray - for size, position and shape of heart , pulmonary vasculature
( Increased /Decreased / normal ). Also note the situs , arch laterality , vertebral and
rib anomalies ( syndromic association )
ECG- axis, rate, rhythm, P-wave, QRS-complex, LVH/RVH hypertrophy.
2D-Echocardiography/ colour Doppler – Last of all investigations to confirm diagnosis ,
know accurate measurements and Doppler estimations for estimating gradients and
note the presence or absence of pulmonary hypertension .
Invasive: Cardiac Catheterization – Rarely used for diagnosis . reserved for those with
poor transthoracic echocardiographic window , essentially to measure pressure
gradients prior to surgery.

Treatment:

Management of heart failure : Diuretics, High calorie feeds with nasogastric tube to
reduce the work of feeding, Digoxin, ACE-inhibitors, Oxygen, IV inotropes and
Ventilation SOS and early referral for surgery if e/o complications or no response to
conservative therapy.
Management of Cyanotic Spells: Knee-chest position, Oxygen, Sodium bicarbonate ,
Morphine , beta-blockers, and palliative surgery.
Management of cyanotic neonate: Prostaglandin infusion, prevent closure of PDA, treat
acidosis, sepsis, hypoxia, hypoglycemia and hypothermia.
IE prophylaxis- Erythromycin/Ampicillin/ Gentamycin.

54
 Flow Chart of acyanotic congenital heart defects

ACYANOTIC DEFECTS

Increased PBF Normal PBF

LVH/CVH RVH LVH RVH

VSD ASD AS/AR PS

PDA PAPVR COA COA(infants)
ECD PVOD (secondary Primary MS
L- R shunts ) myocardial
EFE
MR
.
Flow diagram of cyanotic congenital heart diseases

CYANOTIC DEFECTS

Increased PBF Decreased PBF

LVH/CVH RVH CVH LVH RVH

Persistent TGA TGA+PS Tricuspid atresia TOF

Truncous TAPVR Truncous + PA+ hypoplastic PVOD
Arteriosus HLHS hypoplastic PA RV Ebstein's
Single ventricle Single Ventricle+ anomaly
TGA+VSD Pulmonary Stenosis

55
 Rheumatic Fever and Valvular heart diseases
Four types of clinical scenarios usually present :
1. Acute rheumatic fever
2. Relapse of acute rheumatic fever with chronic valvular heart disease.
3. Isolated Rheumatic valvular disease with H/o infective endocarditis
4. Combined chronic valvular disease
Acute rheumatic fever- Delayed , often recurrent , probably autoimmune reaction to
Group A beta- hemolytic streptococcoal pharyngitis involving joints , skin , brain and
endocardium and heart valves .

History :
H/o streptococcal pharyngitis –Fever , sorethroat - in the recent past (2-3 weeks back)
H/o pallor, epistaxis , abdominal pain .
H/o Joint pain, swelling, duration, joints involved,characteristics of pain and relief with
medications (arthritis).
H/o dyspnoea,palpitations easy fatigability ,exercise intolerance, chest pain, syncope
( s/o Carditis)
H/o skin rash, or nodes ( erythema marginatum , sub cutaneous nodes)
H/o neurological symptoms- purposeless movements, emotional lability, ( Chorea)
H/o complications ( PND, orthopnoea, hemoptysis, palpitations, syncope , edema ).
S/o infective endocarditis (fever with chills,petechie, subcutaneous painful nodes ,
hemoptysis,hematuria ,skin lesions)
H/o medications taken for fever and other symptoms .
H/o previous similar such episodes,
If RHD – h/o penidura injection – compliance & frequency .
Family history of rheumatic fever / rheumatic heart disease.
Immunization, dietary , development & socioeconomic status enquired .
Examination :
General –Vitals, Growth parameters, Scars, Chest asymmetry , icterus, teeth- caries ,
lymph nodes. Skin - erythematous rash & subcutaneous nodes over extensor surface of
head , back & limbs.Nails - pallor, clubbing, cyanosis. Joints - pain, swelling, tenderness
& restriction of movements.
Cardiovascular examination –
Peripheral - Venous, major arterial pulses & Blood pressure (upper & lower limbs).
Precordium –
Inspection – Scars, symmetry, apical pulsation
Palpation – Apex position, point of maximal impulse (PMI), heaves, (parasternal,
substernal, apical)
- Thrills (Suprasternal, supraclavicular and over precordium)
- Palpable S2- (pulmonary hypertension)
Auscultation- (use diaphragm initially, then the bell)
Areas- Apex, parasternal border,pulmonary , aortic areas ( roll patient to left
to accentuate mitral murmurs).
56
Heart sounds – intensity, splitting . Added sounds & Murmurs- systolic/ iastolic/
continuous – define intensity, character, grade , radiation of murmurs & Variation of
murmurs on sitting , inspiration and expiration.
Other Systems- Abdomen – Liver – measure span, note pulsation and tenderness
Spleen – infective endocarditis
CNS - Fundus and other signs of infective endocarditis.
- Choreiform movements
Diagnosis - c/o Acute rheumatic fever /RHD with -------------murmur , grade------, in
sinus rhythm with/ without CHF, with/ without signs of IE, with / without PH , with/ without
rheumatic activity at present with most probable heart involvement being --------
Investigations:
Sleeping pulse rate ( tachycardia - myocarditis/ CHF)
Complete blood count with ESR and CRP (Lab. Criteria)
Throat culture, ASLO – (second antibody titre/ rising titres if initial is normal)
Blood culture (if IE is suspected)
X ray chest for cardiomegaly, pericardial effusion and pulmonary oedema
ECG - PR interval and chamber enlargement
2 D Echo /CD– Status of cardiac –myocardial, valvular & pericardial involvement.
Differential Diagnosis for rheumatic fever- Arthritis - Juvenile Rheumatoid arthritis ,
Collagen vascular diseases, virus associated arthritis, Hematological disorders causing
arthritis.
Commonly asked questions:
Jones criteria- original, modified, update and limitations of Jones criteria.
Conditions causing similar cardiac lesions:
MR- RHD, Collagen vascular disorders, MVP, congenital MR, Marfan's, IE, MPS,
Functional MR, CHF, Ehler- Danlos.
AR- RHD, Connective tissue disorders.
MS – RHD , MVP & Congenital MS.
Differentiation between rheumatic arthritis and rheumatoid arthritis .
Nonspecific criteria for rheumatic fever (abdominal Pain, anorexia, wt. loss, epistaxis,
pallor, chest pain,pneumonia , tachycardia)
Causes of diastolic murmur - Carey comb’s (active carditis) ,Flow murmur-severe MR ,
Mid diastolic murmur of MS and AR murmur.
Differentiation between ARF and RHD.Signs of rheumatic activity .
Prognosis and sequelae of carditis, arthritis and chorea.
Causes of chorea and description of rheumatic chorea.
Surgical indications in various Rheumatic valvular heart disease.
Peripheral signs of Infective endocarditis and Aortic regurgitation.
Drugs for primary and secondary prevention of rheumatic fever if patient is allergic to
Penicillin.
Other tests to prove streptococcal infection.

57
CRITERIA FIRST ATTACK RECURRENCES

Carditis-Major criteria Apical systolic murmur – Change in murmur, new

Valvulitis – Endocarditis
Myocarditis
Pericarditis
2D-ECHO/CD (minor)
Arthritis –Major criteria
Chorea (major criteria)
MR murmur
Diastolic murmur- Cary -
Coomb’s )
Occasionally AR
Unexpected cardiomegaly / Worsening cardiomegaly /
CHF/ Tachycardia worsening CHF
Pericardial rub
Silent or significant MR/AR in
absence of murmur with arthritis
migratory polyarthritis (Self Arthralgia (only pain)
limiting pain+ swelling)
Late manifestation

Erythema Marginatum-major criteria Secondary major manifestations

Subcutaneous nodules – major criteria Isolated skin manifestations in the absence of
carditis or arthritis –insignificant

Minor Criteria ----------------------------- Fever – low grade 100- 102°

Arthralgia (in absence of arthritis)
Increased ESR
Increased -PR interval or QT – no correlation
with murmur, prognosis or residual heart
disease
Increased CRP- Normal in anaemia, CHF

Supportive criteria Increased ASLO titre may be normal in chorea

and in the early phase of disease & in chronic
Carditis.
Jones Criteria & Interpretation
Limitations – Mild attack may not meet the criteria.
- Minor criteria are weak criteria for diagnosis.
- Other clinical conditions may meet the criteria ( Rheumatoid arthritis )
i.e. overlap of symptoms and signs between autoimmune diseases & ARF
- Medications like aspirin may suppress full clinical manifestions and alter
laboratory data.
- Arthralgia and increased PR interval cannot be taken as minor criteria
when arthritis and carditis are major criteria respectively.

58
 Mitral stenosis
Pathology Thickened mitral cusps , fusion of valve commuissures ,
shortening and fusion Chordae.
Symptoms Dyspnoea , orthopnoea, PND ( due to interstitial pulmonary
Grade I- Asymptomatic – with no s/o MS edema , decreased compliance , of the lungs , increased left
Grade II Dyspnoea on exertion with s/o MS atrial pressure ( LAP) & Acute pulmonary edema –causes
Grade III Dyspnoea at rest /intractableCHF sudden tachycardia & tachypnoea.
Hemoptysis – due to ruptured bronchial vessels (LAP)
Signs Mild MS CHF- right sided due to increased LAP
Loudness of S1 pulmonary venous pressure  PAH 
Distance between S2 and O.S
right ventricular decompensation  TR
Length of diastolic murmur
Mid diastolic Palpation
Mid diastolic with pre systolic
Small peripheral pulse -, PMI in mid clavicular line ,
accentuation
Pan diastolic Right ventricular heave suggest PH, apical diastolic thrill
Loud P2
Auscultation
Severe MS
Loud S1, - due to abrupt closure of mitral cusps
DD:
Opening snap due to sudden tensing of the funnel shaped
1) Congenital MS
mitral valve in diastole ( S2 – OS indicates severity of MS
2) Left atrial myxoma
Rumbling , low pitched apical diastolic murmur due to turbulent
3) Cortriatriatum
blood flow through stenosed Mitral valve . Presystolic
accentuation best heard with bell of stethoscope in left lateral
ECG- 1) P mitrale in lead II – broad
position between apex and left lateral border.Loud pulmonic
bifid P wave in II and AVF .
component of S2 – PH. Pan systolic murmur of tricuspid
In V1 – P wave will negative
incompetence in severe PH
terminal portion
Extra cardiac findings :
2) RVH
Distended neck vessels, hepatomegaly and peripheral edema.
Treatment :
X ray – Left atrial enlargement –
Medical –1)Treatment of CHF 2) Penicillin & Infective
straightening of left heart
endocarditis prophylaxis
border
Surgical : Mitral valvotomy-Indications
- Increased pulmonary artery size
- Symptomatic MS
- Rt ventricular enlargement
- M.S with pan diastolic murmur
- M.S with PH
- EF slope on M mode < 50 mm

59
 Mitral Incompetence
Pathology Abn. Coaptation of the mitral leaflets creating regurgitant orifice during systole.
Systolic gradient between LV and LA is the diving force of the regurgitant flow.
Pathophysiology Four hemodynamic consequences- 1) volume overload on LA and LV 2)
Left atrial hypertension 3) Reduction in LV forward stroke volume and cardiac
output 4) Progressive reduction of left ventricular function.
Symptoms &Signs Easy fatiguibility 2) Palpitations 3) Effort dyspnoea4) Congestive heart failure.
Severity Mild BP - Normal / wide pulse pressure/ regular pulse - ankle edema if CHF.
Systolic thrill Palpation – laterally displaced diffuse thrusting apex beat ( enlarged LV )
+
2) Apical systolic thrill 3) Left parasternal heave - late systolic left atrial lift.
Murmur intensity
+ Auscultation- 1) S1 normal in intensity or soft often merged within pansystolic
S3
regurgitant murmur.2)S2 normal and split 3) S3 produced due to rapid
+
Diastolic rumble ventricular filling 4 ) Hallmark of MR is holosystolic murmur blowing in
+ Severe
character and radiating to axilla 5) Diastolic rumble due to increased blood flow
PH
across the mitral valve 6) If PH – loud S2.
Differential diagnosis :
Treatment :
1. Ostium primum with
Medical : CHF
cleft of mitral valve
: Infective endocarditis prophylaxis
2.Mitral valve prolapse
: Rheumatic fever prophylaxis
3.Dilated cardiomyopathy
Surgical Indications: symptomatic patients- (DOE, pulmonary edema),atrial
4. Myocardial disease
fibrillation , thromboembolic phenomenon &
seen in -
hemoptysis
GSD, endocardial
Mitral valve repair – closed – balloon / Closed mitral
fibroelastosis.
Commusirotomy-CMC ( for pliable valves) and Open
5.Systemic diseases –
for calcified Valves and adults .
Marfan’s syndrome
Mitral valve replacement –for calcified valves with MR
6.Infective
with Biological/ bioprosthetic - Homograft – Human cadaveric/
endocarditis
Heterograft – procine / bovine valve.
7.Acute rheumatic
(Advantage: Do not req. anticoagulation , but tend to deteriorate
carditis
rapidly in the young)
Mechanical – Prosthetic valves (Adv- Longer
ECG
durability but require long term anticoagulation and have risks of bleeding,
LAE
thrombus formation & mechanical dysfunction.
LVH
X ray
Cardiomegaly

60
Aortic incompetence

Pathology Postinflammatory scarring of aortic cusps

Pathophysiology Regurgitant flow cause volume overload of left ventricle  left ventricular
dilatation and hypertrophy which permits most patients to remain symptom
free .As lesions progresses decompensation occurs and patient becomes
symptomatic.

Signs : 1) Palpitation on exercise or at rest – due to left ventricular enlargement

Collapsing pulse 2) Effort dyspnoea
De mussat’s sign– 3) Chest pain / angina due to poor coronary perfusion
nodding of head with 4) CHF
each pulsation
Corrigan’s sign– Large volume Pulse – water hammer pulse – due to combination of large
prominent carotid forceful left ventricular ejection volume in early systole followed by regurgitant
pulsations in the neck flow in early diastole.
Locomotor brachialis BP- wide pulse pressure
prominent radial artery Inspection – precordial fullness , apex displaced to left and down
in the arm Palpation – area of PMI- midclavicular line suggestive of LVH
Quincke’s sign – visible Auscultation – 1) S1, S2 are normal 2) Diastolic murmur – best heard with
capillary pulsation in nail patient sitting and bending forward. Heard well in expiration over mid sternal
bed area or lower left sternal border.- High pitched blowing in character
Durozie’s sign – (listen for absence of silence in early diastole)
femoral artery if 3) mid diastolic mitral murmur ( Austin Flint)
compressed , proximally
– a diastolic murmur is Differential diagnosis :
heard due to diastolic 1) PDA 2) VSD with AR 3) Reduced peripheral resistance – AV fistulae ,
retrograde flow anaemia , hyperthyroidism (only peripheral signs but no murmur)
Pulsatile retinal
vessels Treatment :
ECG- LVH Severity of AR-Mild /Moderate /Severe/Very severe
X ray – Cardiomegaly Symptoms-No/No/Nil or present/Severe
Differentiate LV functions –Normal/Normal/Depressed/Severely Depressed
MS murmur Management-Nil/ Vasodilator therapy/Valve replacement/
Austin flint
Medical therapy followed by surgical therapy.
O.S + -
Loud S1 + -
S3 - +
LV dilation - +
RV dilation + --

Combined Valvular lesions

The clinical presentation and natural history of combined lesions is determined by the
relative severity of each individual lesion and chronicity and order of develop.
The Common combined lesions are : MS with MR
: MS with AR
: MR with AR
61
 Mitral stenosis with Mitral regurgitation
Clinical Findings Predominantly Balanced Predominantly MR
MS lesion

Presenting Pulmonary findings + + --

Symptoms Easy Fatigability -- + +

Clinical Signs Parasternal Lift + + Peaks at end systole

S1 Loud + Soft
Prominent apical impulse -- + +
Prolonged diastolic murmur + + --
S3 -- -- +

ECG LVH -- + +
RVH + + --

X ray Lt atrium + + ++
Lt ventricle -- + ++

2 D Echo Mitral Leaflet thickening + + +

Concentric left ventricular -- + +
hypertrophy
Hyperkinetic LV -- + +

Aortic regurgitation with Mitral Stenosis

Clinical Findings Predominant Balanced Predominantly
AR Lesion MS
Presenting Anginal pain ( Chest
Symptoms pain) / Palpitations + + --
Effort tolerance + + +
Pulmonary symptoms -- + +

Clinical Wide pulse pressure + + --

signs Parasternal lift -- + +
Prominent apical impulse + + --
Loud S1 __ + +
S3 or S4 + + --
Effect of squatting/ hand Increased Increased or Decreased
grip on diastolic murmur decreased

ECG RVH -- + +
LVH + + --
Xray LV Dilatation + + --
RV dilatation -- + +
2 D Echo Left ventricular hypertrophy & + + --
Hyperkinetic LV

62
 Aortic Regurgitation with Mitral Regurgitation
Clinical findings Predominant AR Balanced Lesion Predominant MR
Presenting Angina( chest pain) + + +
symptoms Easy Fatigability + + +
Pulmonary symptoms -- -- +

Wide pulse pressure + + -

Signs Parasternal lift -- + +
Diastolic murmur + + --
Systolic murmur + + +
S4 + -- _

ECG LVH + + +
LAD -- + +

X ray LV dilatation + + +
LA dilatation + + +

Echo LV hypertrophy and + + +

hyperkinesis

Treatment
1. Bed rest & Treatment of CHF- duration of bed rest depends on type and severity of
manifestations – ESR & Sleeping pulse rate could be a guide.
1) Treatment of IE and prophylaxis for IE.
2) Nutritional- High calorie, salt restricted diet & fluid restriction.
3) Elimination of streptococci - penicillin prophylaxis
5) Anti-inflammatory agents – Aspirin, steroids
Aspirin 100mg/kg/day tapered to 75 mg/kg/day for 4-8 weeks
Steroids 2 mg/ kg/ day in three divided doses tapered to 1.5mg/ kg/day
after 2-6 weeks depending on severity of carditis.

Pan carditis Carditis + murmur – only Arthritis

Carditis + CHF tachycardia without cardiomegaly
Carditis + Cardiomegaly

Definite steroid Zone Intermediate Zone either /or Definite Aspirin Zone
2mg/kg/day TDS -for4-6Wks 100 mg/kg/day QDS 4- 6 weeks

Prophylaxis – Primary – prevention of streptococcal pharyngitis – 10 day

Secondary prevention - 0.6 megaunits - 1.2 megaunits of benzathine
penicillin every third week (Alternative -oral penicillin 250 mg bd ,
sulphadiazine 1 gm OD, or erythromycin 250 mg bd )
Tertiary – To prevent CHF in a child with known RHD, timely surgery if
required to prevent further complication of disease process.

63
Infective endocarditis : Any heart condition with abnormal blood flow from high pressure
area to low pressure area.require infective endocarditis prophylaxis eg . LV LA- mitral
regurgitation (MVP) , LV Aorta- ( Aortic stenosis ) , LV  RV- ( VSD ) or
Aorta- PA ( PDA)

Classic Tetrad of clinical features-

Infection Heart disease Embolism Immunological –
Fever with rigors Valvular/ shunt lesion Brain- stroke Splinter haemorrhages
Arthralgia Clubbing Kidney – RBC in urine Petichae
Splenomegaly Murmur Liver - icterus Oslers nodes
Anemia S/o CHF Janeway lesions
Roth ‘s spots.

Indications of endocarditis prophylaxis

Minimum risk Moderate Risk High Risk
ASD All CHD except Ostium Secundum ASD Valve prosthesis, Homografts
MVP with our MR All acquired Valvular heart diseases Conduits ,Operated AS
Post VSD repair MVP with MR. HOCM After an episode of Infective
Post PDA ligation Post palliative or corrective surgery endocarditis
Standard prophylaxis High risk Prophylaxis- IV
Single dose peniciilin or ampicillin 1 st dose- 30 min before surgery2
oral 60 min before surgery nd dose- 8 hrs after surgery
IM- 30 min before surgery 3rd dose –16 hours after surgery
IV at beginning of surgery

64
 PROTEIN ENERGY MALNUTRITION (PEM)

PEM is a symptom complex of diverse etiology and single etiopathogenesis.

The child presents with failure to gain in weight with or without short stature.
Presenting complaints
- Poor gain in weight / height
Associated complaints
- Vomiting, loose motion
- Cough, breathlessness, cyanosis
- Difficulty in feeding, suck-rest-suck cycle
- Polyuria, Polydypsia
- Recurrent infections
Birth History
- Age of expectant mother
- Maternal nutritional status
- Birth order, Birth weight
- Prematurity
- IUGR
- Perinatal complications
Dietary history
- Calorie intake / day
- Protein gms / day
- Accurate assessment is difficult and good rapport with mother
- Assessment is done by a 24 hr recall method or a food frequency table, diet
during illnesses
- Calculate calories and protein and calculate the calorie gap and protein gap as
compared to ICMR recommendation
Balanced Diet
- 50 – 55% of total cal intake from carbohydrate
- 10 – 15% of total cal from protein
- 25 – 30% from fats
H/O Breastfeeding ( to be taken in detail in infants )

- Time of initiation, duration, adequacy of breast milk.

- Breastfeeding to be continued till two years of life.
- Breast milk is more advantageous as it is physiological, convenient,
economical, with optimum fluidity and warmth, besides being bio-chemically
superior, microbiologically sterile, immunologically safe, with psychological
benefits of ensuring mother-infant bonding.
- Epidemiologically breastfeeding decreases morbidity and mortality.
65
H/O Artificial / Top feeding
- Considered when either the mother is unavailable, critically ill or no more.
- Formula feeding / cow’s milk
-Dilution , bottle feeding. Over dilution and infection due to contamination are
common causes of malnutrition
H/O Weaning.
Weaning (meaning “to accustom to” ) / Complimentary feeding is started
between 4 – 6 months of age. Breastfeeding must be continued during weaning.
Preparation and storage of weaning foods should be done under hygienic
conditions.
To prevent malnutrition the “Three plank protein bridge” by Jelliffe to prevent
PEM
- Continue breastfeeding
- Introduce Veg proteins
- Introduce animal proteins
Besides supplementary feeding, group eating and small frequent feeds.

SOCIO-ECONOMIC HISTORY
- Education of parents, occupation
- Monthly income, Housing, Sanitary facility
- Family size
- Toilet habits
- Safe drinking water
- Availability of electricity, recreation facility
- Kuppuswami scale – class I to V
- Closely spaced families,
- Working mother.
Psychosocial history
Cultural practices
On Examination –
Anthropometry
1. Weight – Beam balance, electronic scale - simplest, most widely used, most
reliable.
2. Height – Infantometer, stadiometer
3. US : LS ratio
4. MAC – between 1 –5 yrs of age, done on left arm midway between acromion &
olecranon. (<12.5 cms – severe PEM, 12.5 –13.5 – moderate PEM, >13.5
normal ) Not a good parameter for growth monitoring during 1 – 5 yrs of age.
5. Head circumference – maximum occipito frontal circumference
6. Chest circumference
7. Skin fold thickness

66
 8. Somatic quotient – average of Wt, Ht head circumference, MAC expressed as
% age of expected
Age independent anthropometric indicators
1. The Bangle test – inner diameter of bangle of 4 cms crosses above elbow
2. The Shakir’s tape – green (13.5 cms), yellow ( 13.5 – 12.5 cms), red ( <
12.5 cms)
3. The Quac stick – Quacker’s arm circumference stick
4. Modified Quac stick
5. The Nabarrow’s thinness chart
6. The head circumference to chest circumference ratio ( > 1 – normal)
7. MAC to height ratio ( < 0.29 severe PEM , 0.32 to 0.33 – normal )
8. MAC to head circumference ratio – 0.28 – 0.31 – mild PEM
- 0.25 – 0.279– moderate PEM
- < 0.249 - severe PEM
9. Ponderal index ( Wt / Ht3 ) > 2.5 - normal
2.0 – 2.5 - borderline PEM
< 2.0 - sever PEM
10. Dughdale’s ratio ( Wt / Ht1.6 ) > 0.79 - normal
< 0.79 - malnutrition
11. Quatelet index ( Wt kg / Ht2 cm) X 100 > 0.15 - normal
12. BMI (Wt kg / Ht2 m)
13. Mid arm muscle circumference - MAC – ( 3.14 X SFT) cm
Classification of PEM
(I) IAP classification (1972)
N - > 80 % (Wt for age – expected)
I - 71 – 80
II - 61 – 70
III - 51 – 60
IV - < 50 %
(II) Welcome Trust classification ( Boston Standard)
Wt for age ( % of Exp.) Oedema Type of PEM
60 - 80 + Kwashiorkor
60 - 80 - Under weight
< 60 - Marasmus
Marasmic
< 60 +
Kwashiorkor
(III) Gomez classification
Normal - > 90 %
1st deg PEM - 75 – 90
2nd deg PEM - 60 – 75
3rd deg PEM - < 60 %

67
(IV) Classification as per height for Age and Weight for age
Ht for age - Waterloo’s classification
Wt for age McLarein’s classification
Ht for age Waterloo’s McLarein’s
Normal > 95 > 93
1st deg Stunting 90 - 95 80 - 93
2nd deg Stunting 85 - 90 -
3rd deg Stunting < 85 < 80

Wt for age Waterloo’s McLarein’s

Normal > 90 > 90
1st deg Wasting 80 - 90 85 - 90
2nd deg Wasting 70 - 80 75 - 85
3rd deg Wasting < 70 < 75
(V) WHO classification
Ht for age Wt for age HA & WH
> - 2 SD Normal Normal Normal
< - 2 SD Stunted Wasted Stunted & Wasted
Spectrum of PEM
- Kwashiorkor / Marasmus / Marasmic Kwashiorkor / Pre-Kwashiorkor/
- Nutritional dwarfing / Underweight /Invisible PEM
Clinical Signs
- Growth retardation
- Hair changes – Lack luster, thin , sparse ,Flag sign
- Hypochromotricia , Easily pluckable
- Skin changes-Hypo-pigmented, Hyper-pigmented, erythematous, jet black
- “Flaky paint dermatosis” , “Crazy pavement dermatosis”
Xerosis, hyperkeratosis
- Eye Signs.- Pallor, xerosis, bitot's spot ,angular palpebreitis.
- Mucosal changes- Glossitis, Stomatitis, chelosis
- Glands. -Parotid, thyroid gland enlargement
- Hepatomegaly
- Purpura or Bleeding
- Oedema – mooning of face
- Mental changes – Irritability, apathy
- Tremors – appear during treatment
Investigations
- Hb, CBC, Platlet count, Priferal serum, RBS, BUN, S electrolytes, S protein,
Alb, CXR, MT, Urine – R & CS, LFT, RFT, CSF
Management …4 STEPS
- Resuscitation, Hospital care

68
 - Restoration,
- Rehabilitation
- Prevention care
Resuscitation..
Treat medical emergencies
What emergencies? Hypothermia, hypoglycemia, electrolyte disturbance,
sepsis , shock, dehydration, cardiac failure, Anemia
Restoration.
Achieve weight for height - How?
150-200Cal/actual weight , 3-4gm protein/actual weight , 150-165 ml fluid/ actual
weight and Multivitamins and minerals
Given as 2hrly feeds with a feed late night and early morning -Oral or gavage feeds
What type of feed?
Breast feeds, High energy milk
Isodense formulas ,Hyderabad mix, amylase rich food, Cereal pulse mix
Rehabilitation
Allow RDA as per ICMR recommendations
Supplementary through various national nutrition programmes…ICDS
Growth monitoring
Developmental stimulation
Prevention
Prevent LBW babies….Antenatal care & Care of adolescent girls
NIMFES .. Nutrition, Immunization, Medical care, Family planning, Education, Stimulation
NUTRITIONAL RECOVERY SYNDROMES
Gynecomastia, Parotid swelling, Hypertrichosis, Hepatomegaly, Ascites, Spleenomegaly,
Eosinophilia, "Kwashi shake" All are self limited but keep the baby under observation.

Commonly asked questions

Complications of PEM / Poor prognostic signs
National programmes in nutrition
Classifications of PEM
Nutritional recovery syndromes
Difference between marasmus / Kwashiorkor
Diet chart for PEM

69
 APPROACH TO A CHILD WITH RICKETS
Presenting symptoms…
Progressive bony deformity
Bone pains, Fractures
Seizures in young infants, Carpopedal spasm in older children
Delayed dentition, dental deformities
Proximal muscle weakness
Delayed motor development
Associated symptoms…(etiology)
Polyuria, polydypsia (Renal rickets, RTA)
Recurrent diarrhoea , steatorrhoea ( Malabsorption..fat)
Jaundice, distension abdomen (Chronic liver disease, Cholestatic
jaundice)
Pallor (Nutritional, Wilson’s disease, Chronic renal failure)
Visual problems (Lowe’s syndrome, Cystinosis)
Alopecia - Patchy, totalis (Vit. D Dependent Rickets Type II)
Hearing affection ( RTA)
Recurrent respiratory infection
Mental retardation
Drugs ingestion- Anticonvulsants,anti tubercular drugs
Antenatal history…
Calcium supplement in expectant mother
Consanguinity (Autosomal recessive disorder)
Preterm /Full term (Osteopenia of prematurity)
IUGR (may manifest with rickets during catch up growth)
Dietary history…
Breast feed/ top fed
Vit D or Calcium supplement
Weaning
Balanced diet
Exposure to sunlight
Family history of similar complaints (X linked hypophosphatemic rickets)
Examination
Anthropometry - Short stature, Disproportionate short stature
Bony features of rickets - Craniotabes (young infants), wide open / persistent open
anterior fontanelle, fronto parietal bossing giving a hot cross bun appearance, rachitic
rosary ,Harrison sulcus, pectus excavatum, widening of wrists, double malleolus, Bowing
of long bones, genuvarus / genu valgus; coxa vera/ coxa valga deformity.
Dental feature: -
Delayed eruption of teeth, dental abcess, pulp defects, dental problem usually affect the
secondary detention.
Muscle and ligament: -

70
Proximal muscle weakness causing waddling gait, difficulty in climbing stairs, difficulty in
getting up squatting position. Visceroptosis, laxity of ligaments.
Associated problems: -
Pallor, Icterus, other vitamin deficiencies, hypertension, alopecia, hepatosplenomegaly,
cataracts, glaucoma, sensorineural hearing loss.
Investigations:-
1. S.Calcium, S.Phosphorous , Alkaline Phosphatase
2. S. Parathyroid hormone level
3. S. 25 hydroxy vitamin D level,
4. S. 1, 25- di hydoroxy vitamin D level
Radiological features
Characteristically seen at the epiphyseal ends of long bones. Cupping and fraying ,
delayed appearance of epiphyseal centers, cortical thinning, bowing of long bones and
fractures are some of the features

Investigations for secondary causes:-

RTA….Arterial Blood gas --for HCO3 levels with simultaneous Urine pH, S. Electrolytes.
Hypophosphatemic Rickets….TmP GFR
Malabsorption….Qualitative and quantitative fat estimation in stool.
Renal failure…S. Creatinine, Blood Urea , Urine Specific gravity.
Hepatic…. Liver function tests, S. Ceruloplasmin

Biochemical abnormalities in various etiologies :-

Type Ca P Hco3 Calcidiol Calcitriol PTH

Vit D def. L V N L V H
Calcidiol def. L L N N L H
VDDR II L L N N H H
Fanconi N L L N L N/H
XLH rickets N L N L N N/H
Oncogenous N L N N L N
MCAS N L N N N
Preterm N L N N H/N N/L
Distal RTA N N L N
Uremia V H L L/N L H

L- Low, N-Normal, V –Variable, H-High ; Def. – deficiency; VDDR – Vitamin D Dependent Rickets;
XLH –X linked Hypophosphatemic ; MCAS-McCune Albright Syndrome; RTA-renal Tubular
Acidosis

71
Therapy-
 Nutritional rickets :
A consensus regarding the ideal protocol of treatment is lacking. VitD3 (cholecalciferol) is
the preparation of choice in a daily dose of 1600-2000 untis/day. A large single dose of
6lac units ensures compliance but has the risks of causing hypercalciuria and
nephrocalcinosis. It is a must to supplement calcium in a dose of 800mg/day in children
and 1200mg/day in adolescents.
 Rickets due to other causes need specific therapy.
Calcitriol deficiency - Calcitriol 1-3micgm/day
Calcitriol resistance - 1.5-20micgm/day
Hypophosphatemic rickets -
Soluble phosphate..1000 – 1500 mg of phosphorous daily 4 or more doses.
Calcitriol 1-2 micgm/ day ( avoid hyperclacemia, hypercalciuria)
RTA .Bicarbonate supplementation

72
 APPROACH TO A CASE WITH SHORT STATURE
Short Stature (SS) is one of the common presenting symptoms in any pediatric outpatient
clinics. Although everyone can observe a large amount of variability in the human
population, many parents and their children want to conform to an idealized standard
which has led to many referrals to pediatricians and pediatric endocrinologists.
Fortunately majority of these children do not have an underlying hormonal or genetic
disease.
A child may be regarded as having growth retardation if his/ her height is
 Less than the 3rd percentile or 2SD below the mean for age of the population
reference standard.
 Excessively short for the Mid-Parental Height (MPH) or Target height (TH) even if
the height recorded is within the normal population percentiles for age.
 Demonstrates a growth velocity of less than 25th percentile on a velocity curve
when assessed over a minimum period of 12 months.
The control of the growth process is related to many complex interacting factors ,
including internal cues such as genotype, external factors such as nutrition and
environment ,and internal signaling systems such as hormones and growth factors. As
might be expected from the multiplicity of control mechanisms for growth , there are many
causes of short stature.
Normal growth velocity:
Intrauterine period is the most rapid growth period. In the first year of life a child grows by
25cm, 12.5 cm in 2nd year, 6-7cm in 3rd & 4th year, 5cm per year from 5-9 years with a
nadir of 3.5 cm per year pre pubertal. During pubertal growth spurt 10-30 cm height is
gained, with peak growth velocity of 9-11 cm per year in boys and 7-9 cm per year in
girls.Body proportions (upper segment: lower segment) change from 1.7 at birth to 0.98-1
by 13-14 years of age and to 1 in adult hood.
CAUSES OF SHORT STATURE
I. PHYSIOLOGICAL OR NORMAL VARIANTS
 Familial short stature (FSS)
 Constitutional delay of growth and puberty (CDGP)
II . PATHOLOGICAL CAUSES
A. .DISPROPORTIONATE SS …
 Rickets, Skeletal Dysplasia , Congenital hypothyroidism.
B.. PROPORTIONATE SS ….
 Prenatal Causes.
IUGR ,
Dysmorphic syndromes—e.g. Russel Silver syndrome
Chromosomal disorders.—Down’s syndrome, Turner’s syndrome
 Postnatal Causes
1. Systemic diseases …
Chronic anemia, Chronic renal failure, Chronic liver disease , Asthma

73
 , Congenital heart disease
2. Chronic undernutrition
3. Endocrine causes
i. Growth hormone deficiency (GHD)
ii. Hypothyroidism .- congenital /Acquired
iii. Cushing’s syndrome
iv. Diabetes mellitus
v. Pseudohypoparathyroidism
4. Psychosocial dwarfism
Idiopathic

EVALUATION OF A CHILD WITH SHORT STATURE (SS)

The key to initial evaluation of SS is the history , determination of auxological parameters
and detailed clinical examination. Thus the approach to short stature must be a careful
balance designed not to miss pathology disorder without over evaluation.
Facts to be elicited in the history (Etiology)
Ante-natal History– Substance abuse, Medication, Infections (IUGR)
Birth History -- Birth weight /Gestation age ( IUGR)
H/O birth asphyxia ( Hypopituitrism),
Breech delivery, Neonatal hypoglycemia (GHD)
Prolonged neonatal hyperbilirubinemia (Hypothyroidism)
Developmental milestones . (Hypothyroidism ,chromosomal/genetic cause) Symptoms
pertaining to illness…
Shortness of breath, cyanosis, cough, fever, (Heart disease, asthma,TB)
Diarrhoea, Steatorrhoea, Abdominal pain (Malabsorption)
Head ache , vomiting, visual problems ( Pituitary – hypothalamic mass)
Constipation, lethargy, feeding difficulty (.Hypothyroidism)
Polyuria ,(.RTA, Chronic renal failure )
H/O Hepatitis, distension abdomen, malena (Chronic liver disease )
Recurrent blood transfusions ( Thalassemia and other chronic anemias)
Dietary history .. to elicit weaning practice, calorie and protein intake
Drug history .. prolonged use of corticosteroids, amphetamine derivatives.
Family history of SS in first /second degree relatives (FSS),
Delayed puberty in one or both parent (CDGP)
Social history .. child abuse, family discord, emotional deprivation
(Psychosocial dwarfism)
ANTHROPOMETRY ..
Measurement is the basis of growth assessment. Measurements made accurately and
precisely and interpreted correctly are more specific and more sensitive than analyses of
single hormone concentrations in children.The measurements must be made on
appropriately designed equipment and it is ideal to have the same person taking the
readings to eliminate interpersonal errors.
74
Parameters ..
1. Height (cms)
 For children < 2yrs of age supine length (TL) should be measured on an
infantometer and two personnels are required to make an accurate measure.
 For children >2yrs of age standing height is measured on stadiometer.
 Plot the value on a reference curve.
 Calculate the height age ( the chronological age at which this measurement of
height is on the 50th percentile of reference curve)
 Correlate the height to MPH range in children more than 2 yrs of age.
Mid Parental Height (MPH) or Target Height (TH) range is calculated as in
Boys MPH range = {(Father’s height + (Mother’s height+13)) / 2}+/-8.5cm
Girls .MPH range= {((Father’s height –13) + Mother’s height ) / 2}+/-8.5cm
2. Body proportions …
 US : LS ratio :: Vertex to pubis: Pubis to sole of foot.
(Normal .At birth-1.7:1, At 3yrs-1.4:1,At 5yrs-1.3:1,At 6yr 1.2:1,
At 8yrs-1:1, At10yrs-0.98:1)
Lower segment longer than the upper segment by more than 5cms
after completion of puberty is considered disproportionate.
 Arm span : Total height . Arm span is usually within 5 cm of the height.
3. Weight, Head circumference ,Chest circumference are other parameters
which need to be measured
Clinical examination features and Etiology
 Dysmorphisim , congenital malformation-Genetic syndromes
 Midline defects, Single upper central incisor, Micropenis – GHD, Hypopituitarism
 Signs of vitamin deficiencies – Malabsorption , Rickets
 Jaundice , clubbing—Chronic liver disease
 Pallor – Chronic anemia, Renal failure, Liver disease
 Central obesity, striae, proximal weakness- Cushing’s syndrome
 Hypertension – Chronic renal failure
 Goitre, coarse & dry skin, delayed relaxation of tendon jerks –Hypothyroidism
 Round face, short 4th metacarpal –Pseudohypoparathyroidism
 Pubertal staging – delayed puberty
 Webbed neck, wide spaced nipples, increased carrying angle in a short girl –
Turner’s syndrome
LABORATORY INVESTIGATIONS
 Study of the growth chart
 Bone age – Xray left hand wrist to tips of fingers (assessed by Atlas or Scoring
method)
Counting the number of carpal bones is an inaccurate method of calculation of
bone age and should not be attempted.
 Screening tests
Hemogram – Hb, CBC, ESR , Periferal smear examination
S. creatinine, S. Calcium, S. Phosphorous, Alk PO4.
75
 SGPT, S. Proteins , RBS, Blood gas analysis, S. Electrolyte
Urine examination – routine & microscopic
Stool examination for ova & cysts
 Karyotyping if suspected Turner’s syndrome .
Buccal smear is unreliable and should not be used to diagnose Turner’s syndrome.
 Hormone studies ( if indicated)
Thyroid profile, Provocative tests for growth hormone assay
IGF1 , IGFBP3 …as screening test for GHD (if available)
Indications for hormone studies
 Subnormal growth velocity
 Markedly stunted height
 Height below MPH range
 Retarded bone age
 Other causes of pathological SS ruled out.
Single basal GH level has no diagnostic value and should not be done.
MANAGEMENT :
 Counselling ….Irrespective of the presence of underlying cause to SS.
Avoid negative comparisons between siblings/ cousins/peers.
 Exercise should be encouraged.
 Balanced diet with recommended daily allowances of vitamins and minerals
should be emphasized.
 In some cases of CDGP who are psychologically disturbed due to delay in
puberty , a short low dose of testerone or estrogen may be given
 GH therapy is not indicated clinically in the absence of GHD.
 Limb lengthening surgeries in achondroplasia can be considered under an
orthpedic surgeon’s care.
SOME COMMON CAUSES OF SHORT STATURE
Familial Short Stature(FSS)
 Commonest cause of SS
 Short child of short parents
 Ht <3rd percentile but within MPH range
 Growth curve runs parallel to the 3rd percentile
 US/LS normal for age
 Bone Age (BA ) = Chronological Age (CA) > Height Age (HA)
 Attains puberty at appropriate age
 Adult stature below 3rd percentile
Constitution Delay in Growth & Puberty(CDGP)
 Second common cause of SS
 More frequent in boys than girls
 Born with normal weight and length.
 Growth falters around 2 yrs of age and Ht falls <3rd percentile for age
 Follows a curve parallel to 3rd percentile through out childhood
76
  US/LS normal to eunuchoid.
 HA = BA < CA
 Onset of puberty and adolescent spurt is delayed
 Family h/o delayed puberty in one of the parent may be present
 Adult stature is normal.

Child referred for growth retardation

Ht.,US:LS, Wt, growth charting, mid-parental height.
History and examination

Normal Short
Clues to etiology from history/examination

Reassure and advise

routine height and Present Absent
weight yearly Bone age
by pediatrician
Confirmatory
test and Borderline stature Significantly
treatment and / or normal short and / or
bone age delayed bone age
Observe growth
velocity for 1 year

Normal Abnormal
Screening
Investigation

Physiological
short stature Abnormal Normal

Karyotype in girls
Tests for GHD, RTA
and malabsorption
Reassure and advise Treat the
routine height and cause
weight yearly Abnormal Normal
by pediatrician

Treat the Idiopathic

cause short stature
FLOWCHART FOR EVALUATION OF GROWTH RETARDATION

77
 DIAGNOSTIC APPROACH TO AMBIGUOUS GENITALIA.
A child born with ambiguous genitalia constitutes a medico-social emergency and a
multidisciplinary team constituting a pediatric endocrinologist, pediatric surgeon and a
psychologist has to be convened. The initial goal is to assign the sex of rearing as quickly
as possible and the ultimate aim is to reach a definitive diagnosis.
What constitutes ambiguous genitalia:
1. Severe hypospadias with no gonads palpable
2. Severe hypospadias with one gonad palpable
3. Severe peno or perineoscrotal hypospadias with both testis descended.
4. Micropenis with no gonads palpable
5. Phenotypic female with mass palpable in groin or labium majora.
6. Phenotypic female with clitoral enlargement
History: -
Age of onset …present since birth,(disorders of sexual determination and differentiation)
Associated complaints…difficulty in passing urine, problems of urinary stream (hypospidias)
Hyperpigmentation (CAH), Failure to thrive, vomiting (CAH)
Polyuria, polydypsia, salt craving (CAH), Anosmia(Central hypogonidism),
Mental subnormalcy (syndromic forms),
inguinal hernias with prolapsed gonads (Androgen insensitivity syndrome)
Consanguinity (autosomal recessive disorders)
Family history of similar disorders, unexplained sibling deaths (CAH), anosmia
(central hypogonadism), infertility, hirsutism (CAH,hyperandrogenism),
menstrual irregularities, genital anomalies (dysmorphic syndromes) ,
inguinal hernias with prolapsed gonads (Androgen insensitivity syndrome)
Antenatal history :-
Drugs or hormone use (phenytoin inhibits 5 alpha reductase, progestins cause hypospadias),
Androgen producing tumours, virilization,
Natal history ..
 Full term / Preterm ( 3.5% term male and 20% preterm can have
cryptorchidism)
 Birth weight (IUGR)
On Examination:-
Anthropometry … Weight, Height, Surface Area, BMI ,Body proportion
Look for failure to thrive (CAH) , short stature (central hypogonadism)
Hyperpigmentation… Look at genitals, linea nigra, areola, axilla, knuckles, flexures.
Dysmorphic features …
 Syndromic Forms
Denys Drash, Goldenhar, Smith lemli opitz, Frasier,
Robinow,VACTERL, Ellis van Creveld, and many more

78
  Chromosomal anamolies
Trisomy 13,Trisomy 18, Triploidy 4p-,13q- and many more
Examination of genitals
Are gonads palpable ….Unilaterally or bilaterally or none
 Palpable gonads- mobile oval masses palpated below the inguinal
ligament are testes
until proved otherwise.(Federmans rule).
 Evaluate for size, texture, presence of epididymis
2. Number of openings …..Single or two
3. Fusion of labioscrotal folds ….Complete or partial
4. Scrotum … well developed or poorly developed
5. Phallic length and breadth, Glans well formed / poorly formed.
6. Palpable gonad in inguinal swelling in a female
7. Hyperpigmentation

Assessment for presence of mullerian structures

 Per rectal examination …needs experience
 Pelvic ultrasound … Look for uterus and ovaries
Hormonal evaluation ( as indicated)
8:00 am - S.17 hydroxyprogesterone , S.Electrolytes, ….CAH
The integrity of the hypo- pit- gonadal axis by measuring
LH, FSH, Testosterone (T) , Dihydrotesterone (DHT),
HCG stimulation test with T/DHT ratio (in 5 alpha reductase deficiency)
Karyotype …to ascertain the genotypic sex.
Imaging-
USG pelvis to determine presence of internal organs and undescended testes.
Genitogram with retrograde contrast media , MRI.
Laproscopy and Gonadal Biopsy- definitive gonadal diagnosis

Enzymatic assays - skin fibroblasts for 5 alpha reductase deficiency and AIS.
Molecular biology- for specific mutations

79
 DIAGNOSTIC INTERPRETATION OF CLINICAL FINDINGS IN AN INFANT WITH
AMBIGUOUS GENITALIA
Congenital Partial
Adrenal Androgen XY Gonadal Testosterone
Hyperplasia Insensitivity Dysgenesis - Biosynthetic
Clinical Findings (CYP21) Syndrome True herm Defect
Genitalia + + - +/-
symmetrical
Hyperpigmentation + - - +/-
Gonad(s) palpable - + + +
Uterus present + - +/- -
Dysmorphic facies - - +/- -
Systemic illness +/- - - +/-
Positive family Siblings Sibling, uncle, Sibling Sibling
history or aunt
+ = present; - = absent; +/- = present or absent.
INVESTIGATIONS FOR AMBIGUOUS GENITALIA

Features Identified Differential Diagnosis Most Appropriate Tests

 No gonads palpable  CAH  Serum 17-OHP

 Uterus present (digital (21-OH D./ 11beta-OH Def.)  Electrolytes, glucose
examination or ultrasound);  Karyotype
 Hyperpigmentation  Sinugram

 Gonad(s) palpable;  Partial AIS  Karyotype

 No mullerian structures  Testosterone biosynthetic  hCG stimulation test
 Affected sibling, uncle, or defect.  Pelvic ultrasound
aunt  Urogenital sinugram

 Asymmetrical labioscrotal  Mixed gonadal  Karyotype

folds dysgenesis  Gonadal biopsy
 Gonad(s) palpable;  True hermaphroditism  Pelvic and abdominal
 Mullerian structures ultrasound
present  Albuminuria,,BUN,
 Dysmorphic features Electrolytes
CAH = Congenital adrenal hyperplasia; AIS = androgen insensitivity syndrome;
hCG = human chorionic gonadotropin.

80
 BRONCHIECTASIS

Bronchiectasis is a disease characterized by abnormal irreversible dilatation of the

bronchial tree associated with recurrent infections and likely represents a common end
stage of a number of non-specific and unrelated antecedent events.

HISTORY:
PRESENTING COMPLAINT: Patients typically present with fever, chronic cough,
purulent sputum, weight loss and loss of appetite.

A) RESPIRATORY SYSTEM
 SYMPTOMS
o Impaired exercise tolerance
o Cough-frequency/severity/nocturnal/exercise
induced/change in pattern.
o Sputum-volume/color/blood tinged/recent change
o Fatigue/Dyspnea/Chest pain
o Chronic sinusitis
o Wheezing might point towards allergic
bronchopulmonary aspergillosis
o Bronchodilators required and response to their use
 PAST COMPLICATIONS: pneumothorax/hemoptysis
 INVESTIGATIONS DONE: Sputum culture, chest x-ray, pulmonary function tests,
pulse oximetry.
 THERAPY RECEIVED-exercise, physiotherapy, nebulised saline, bronchodilators
or antibiotics.

B) GASTRO INTESTINAL SYSTEM: Generally GI symptoms are present in cystic

fibrosis or in IgA deficiency. Liver is affected in alpha 1 antitrypsin deficiency.
 History of weight loss/pain abdomen/vomiting/loss of appetite
 History of oily, bulky or offensive stools.
 History of meconium ileus or rectal prolapse

C) Recurrent pyogenic infections are suggestive of immunodeficiency. Recurrent

middle ear infections are suggestive of ciliary dyskinesia or immunodeficiency.

FAMILY HISTORY: History of tuberculosis or cystic fibrosis in the family.

IMMUNIZATION: History of receiving BCG or measles or pertussis vaccine.
EXAMINATION:
A) General Examination
a) Pubertal status (Tanner staging) - A delay in puberty may be seen.
b) Nutritional status
81
 c) Parameters –Weight, height, head circumference, percentiles.
d) Vitals- Pulsus paradoxus (severity of airway obstruction)
Pulses Alternans (congestive cardiac failure)
Bounding pulse (hypercarbia)
e) Look for clubbing/ cyanosis/ icterus
f) Ears –Secretory otitis media
g) Nose – Nasal polyps
h) Mouth- cyanosis/thrush

B) Affected system
RESPIRATORY SYSTEM
Inspection- Note the increase in AP diameter.
Cough-Moist/productive/ foul smelling
Perform peak flow measurement if possible.
Palpation- Measure the AP diameter (hyperinflation), Tracheal position, position of
apex, palpable pulmonary valve closure
Percussion- Hyperinflation /consolidation
Auscultation- Coarse leathery crepts over the affected region (First heard in the upper
lobes in cystic fibrosis)
Wheeze may be present
Loud second heart sound in pulmonary hypertension
Gallop rhythm in cor pulmonale
Dextrocardia in Kartagener syndrome

C) GASTRO INTESTINAL SYSTEM

Inspection –Distension of abdomen
Prominence of veins
Tanner staging
Striae (corticosteroids)
Palpation- Liver may be pushed down because of chest hyperinflation
Hepatomegaly
Splenomegaly
Ascites (fluid thrill/shifting dullness)

DIAGNOSIS:
Recurrent pulmonary infections and persistent productive cough are historic hallmarks of
the disease
a) HRCT is the procedure of choice. It shows dilated thickened bronchi extending into the
periphery of the lung and may be accompanied by the pulmonary artery giving a signet
ring appearance. To establish anatomic diagnosis, HRCT has replaced bronchography as
the procedure of choice.
b) CONTRAST BRONCHOGRAPHY –It remains the most sensitive method for
determining the presence and exact anatomic distribution of bronchiectasis. It is indicated

82
for the detection of persistent segmental atelectasis refractory to chest physiotherapy and
lesions obstructing the airway. Its use is very limited.
c) CHEST X-RAY –Typical findings include
- Increased bronchopulmonary markings and opacification of the affected area.
- Localized atelectasis/consolidation.
- Honeycombing.
d) BLOOD - Serum immunoglobulin (IgG & IgA) -IgG deficiency is a treatable cause of
bronchiectasis
- Sweat chloride testing
- Alpha 1 antitrypsin measurement
- Polycythaemia (chronic hypoxia)/Anemia (chronic infection)
e) PULMONARY FUNCTION STUDIES-Spirometry demonstrates obstructive pattern & in
advanced disease both obstructive and restrictive pattern is seen.
f) BLOOD GAS ANALYSIS
g) SPUTUM –Stain and culture for mycobacterium tuberculosis
Mucoid strains of pseudomonas aerogenosa are seen in cystic fibrosis.
Aspergillus in allergic bronchopulmonary aspergillosis.
h) BRONCHOSCOPY-This procedure is indicated for
- Bronchoalveolar lavage (bacterial fungal cultures)
- Endobronchial foreign body
- Detection of persistent atelectasis.

MANAGEMENT:
 Prognosis depends on the cause. If treatable then treat the cause.
 Chest physiotherapy and postural drainage are the mainstay of therapy.
 Bronchodilators
 Prompt and judicious use of antibiotics during exacerbation.
 Intravenous immunoglobulin in hypogammaglobulinemia.
 Surgical resection if the disease is progressive and localized.

83
 HEPATOSPLENOMEGALY WITH ANEMIA
HISTORY:
Informant being-----------, name, a ------ yr old------ child, born of a consanguineous/ non-
consanguineous marriage, residing at-----------, belonging to----------- community was
brought to this hospital------- days ago with
Chief complaints: Abdominal distension
: Abdominal lump
: Associated with lump elsewhere
 H/o Icterus, pallor, petechie, purpura.
 H/o anorexia, nausea, vomiting, dysphagia, diarrhea, constipation, clay colored
stools, worms, mucus in stools.

Onset, duration, progress of the chief complaints should be enquired into.

 No h/o Koch’s/ Koch’s contact or swelling of PPD given in hospital.
 No h/o chronic fever with rigors (Chronic malaria/ Kala Azar)
 No h/o jaundice in the past, hematemesis / malena / hematochezia / dilated veins
on abdominal wall (portal hypertension)
 No h/o umbilical catheterization/ History /s/o umbilical sepsis in neonatal period
(Extrahepatic portal hypertension)
 No h/o altered sensorium/ unconsciousness/ coma/ convulsions (hepatic
encephalopathy)
 No h/o blood transfusions, other sibs affected (Hepatitis B/ Hepatitis C / Chronic
hemolytic anemia)
 No h/o petechie, purpura/ ecchymosed (leukemia/ hypersplenism)
 No h/o breathlessness/ edema feet/ increased precordial activity/refusal to feed
(CCF)
 No h/o delayed milestones/myoclonic convulsions/incoordination (storage
disorder- Niemann-Pick disease, Gauchers)
 No h/o defective vision/ hearing (Mucopolysacchridosis, Osteopetrosis)
 No h/o fever / rash in mother during pregnancy (intrauterine infection)
 No h/o fractures (Osteopetrosis)

EXAMINATION:
 Patient is conscious, irritable.
 Vital signs.
 Anthropometry measurements – with percentiles.
 Abdominal girth (in c/o ascites)
 PRESENCE/ABSENCE: pallor, icterus, cyanosis, clubbing, significant
lymphadenopathy, edema feet, increased JVP (CONSTRICTIVE PERICARDITIS)
 Look for platynychia/koilonychia, petechie, purpura/ ecchymosis, xanthomas,
pruritus marks, hemolytic facies, and phylecten.
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  Signs of liver cell failure
 Genitals
 BCG mark, PPD mark, abdominal tap mark, liver biopsy mark, SPG mark.
 Skull/ spine
 Dental cavity- dentition, fetor hepaticus

SYSTEMIC EXAMINATION
Abdominal system:
INSPECTION: Abdomen is round in shape, distended with everted stretched umbilicus
with fullness in flanks. There are no scars, abdominal tap marks, liver biopsy, SPG
marks, sinuses or dilated veins. Hernial orifices and genitalia are normal.
PALPATION: There is edema of abdominal wall/ doughy abdomen. Superficial palpation:
tenderness/guarding/ rigidity.
Deep palpation:
Liver-----enlarged-------cms in Right midclavicular line and ---------cms in midline below the
xiphisternum; upper border of liver dullness is in--------- Right Intercostal space; span-------
cm. The edge is sharp/ round/ leafy. The surface is granular/ lumpy/ tender/nontender.
Consistency----soft/firm/hard. Moves with respiration. Pulsations-Rub/bruit over the liver.
SPLEEN is--------cm from the left subcostal margin; is non tender; smooth in consistency;
soft/firm or hard; anterior notch is felt; there is/ is no bruit.
PERCUSSION: S/o free fluid in the form of puddle sign (120cc)/ Shifting dullness (>1
litre)/ Horseshoe dullness Fluid thrill (>2 litres).
AUSCULTATION: Bowel sounds, Bruits

Per rectal examination

Diagnosis
-------Yr old M/F from---------community born of a-------marriage with hepatosplenomegaly
with pallor/ icterus/ hematemesis/ malena/ IU infection/ umbilical vein catheterization with,
failure to thrive, with vitamin deficiency A/D/E/K. with s/s of liver cell failure, with s/s of
Portal hypertension with s/s of hypersplenism with dysmorphic features, or s/s of
congenital infection/ cataracts or s/s of storage disorder.

Differential diagnosis:
Hepatosplenomegaly:
 Infection - Disseminated Koch’s, malaria, kala azar, SBE, IU infection, Neonatal
Hepatitis syndrome.
 Hematological - Chronic hemolytic anemia, leukemia, Hodgkin’s lymphoma.
 Congestive - CCF, constrictive pericarditis, Budd-Chiari, Portal hypertension.
 Storage - Niemann pick disease, Gaucher, GSD, MPS.

Splenohepatomegaly:
 Gaucher’s disease type 1 to 4

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Hepatosplenomegaly with lymph nodes:
 Disseminated Koch’s, leukemia, lymphoma, infectious mononucleosis.

Splenomegaly with pallor/ icterus:

 Hemolytic anemia, cirrhosis, Portal hypertension, hypersplenism.

Splenomegaly with petechie / ecchymosis:

 Acute leukemia, SBE, ITP, hypersplenism.

Hepatomegaly:
 TB, kwashiorkor, CCF, leukemia, lymphoma, congenital hepatic fibrosis, Storage
disorders (glycogenosis, MPS, Gauchers disease, Niemann-pick disease), tumors
(hepatoblastoma, wilms, neuroblastoma).

Splenomegaly:
 Infections- malaria, kala-azar, TB, SBE, CMV, EBV, Toxoplasmosis.
 Hematological -hemolytic anemia, hemoglobinopathies.
 Congestive - PHT, cirrhosis, chronic CCF, constrictive pericarditis.
 Infiltrative- Niemann-pick disease, Gaucher’s disease.
 Neoplastic -leukemia, lymphoma.
 Miscellaneous-Rheumatoid arthritis, SLE.
 Massive splenomegaly-disseminated Koch’s, malaria, kala-azar, Extrahepatic
portal hypertension, tropical splenomegaly, spherocytosis, osteopetrosis.
 Moderate splenomegaly- above+ leukemia, Hodgkin’s lymphoma, hemolytic
anemia.
 Mild splenomegaly -above+ typhoid, SBE, septicemia.

Hepatosplenomegaly with anemia:

 Neonatal-Isoimmune hemolytic anemia, congenital spherocytosis, alpha
thalassemia, TORCH, TB, congenital malaria, congenital leukemia, histiocytosis,
neuroblastoma, osteopetrosis.
 Infancy- Thalassemia, sickle cell anemia, Malignancy, Malaria, Kala-azar, TB,
Gauchers, Niemann-Pick disease, GSD.
Childhood – spherocytosis, Infection, JRA, SLE, Cirrhosis with portal hypertension,
Malignancy
Hepatosplenomegaly with ascites:
 Disseminated Koch’s
 Cirrhosis of liver- post hepatitis, Indian childhood cirrhosis, Wilson’s Disease,
portal hypertension
 Congestive- Constrictive pericarditis, Budd-Chiari, pericardial effusion.
 Malignancy-rarely ascites.
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 INVESTIGATIONS
Routine: Hb/CBC, platelet count, Peripheral smear, reticulocyte count
ESR: raised in TB, malignancy, and collagen vascular disease.
Urine routine: bile salts/bile pigments in urine.
Stool routine: occult blood, worms, E.Histolytica.
Chest X-Ray, MT
Specific tests : LFT- S.bilirubin, SGOT, SGPT, ALK.Phosphatase, total protein, albumin,
PT/PTTK
USG ABDOMEN: detects hepatosplenomegaly, liver architecture, gall bladder and biliary
tree pathology, portal vein size, lymph nodes and free fluid in abdomen.
Liver scan if required.
Liver biopsy.
Ascitic tap if significant quantity of free fluid present.
S.calcium/phosphorus/alkaline phosphatase.
S.BUN/creatinine/ electrolytes.
Other investigations depend on the etiology.
 Slit lamp examination to detect KF ring, S.ceruloplasmin, urine copper excretion
(Wilson’s disease).
 TORCH titres to r/o IU infection.
 Hb electrophoresis to detect thalassemia, sickle cell disease etc
 Other tests: HbsAg, Osmotic fragility, Blood culture, Bone marrow examination,
Plasma and urine aminoacidogram, Alpha-1 antitrypsin levels, Sweat chloride to
detect cystic fibrosis.
Treatment: depends on the underlying etiology.
THALASSEMIA
-------- yr old M/F child BOCM/ BONCM belonging to ----------------- community , weighing--
---- kg with an expected wt of ---------- kg residing at-------, hailing from-
presented with c/c of
increasing pallor
abdominal distension
failure to thrive
H/o repeated transfusions—transfusions started at what age, regularity and
frequency of transfusions.
H/o receiving any regular injections/ medications.
H/o discolouration of skin
H/o not achieving adequate weight and height.
Older child-----h/o having achieved puberty.
H/o repeated chest infections/ breathlessness
H/o deafness(sensorineural deafness due to desferrioxamine toxicity or bony expansion
and compression of the eight cranial nerve.)
H/o complications of blood transfusion------ blood transmitted disease, iron overload
FAMILY HISTORY----- OF Sibling/ relatives receiving transfusions
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DIET HISTORY------to check the iron consumption in food
Rest of the history as usual.
ON EXAMINATION
GENERAL INSPECTION
Position patient,Vital parameters ,Growth Parameters –Height ,Weight with
Percentiles ,Tanner staging for puberty ,
Skin Colour , Pigmentation , Pallor , Jaundice
Facial features-Frontal bossing/Parietal bossing/Chipmunk facies / Maxillary
Overgrowth/ Dental malocclusion /Prominent malar eminence/ Broadened
nasal bridge
Hands- Finger tip pricks / Pallor, pigmentation
Peripheral stigmata of chronic liver disease
Pulse -Slow(hypothyroid) ,Irregular(cardiomyopathy) , Alternans(CCF),
Hyperdynamic(anaemia)
Head & neck- Conjuctival pallor ,Scleral icterus ,Cataracts(desferrioxamine)
Retinopathy(desferrioxamine) , Teeth:dental malocclusion, Neck/goiter
Heart-Full precordial examination to detect cardiomyopathy, CCF, haemic
murmurs
Abdomen- Distension ,Splenectomy scar
Injection sites –Desferrioxamine/ Insulin
Hepatosplenomegaly
Lower limbs and gait- Leg ulcers , Ankle odema(CCF) ,Bony tenderness
Gait examination for long tract signs-----due to vertebral bony expansion and
cord compression
Delayed ankle jerk relaxation
Back examination for lordosis, tenderness
Others-Urinanalysis for glucose
Chvostek’s and Trousseau’s signs(hypoparathyroidism)
Hearing(sensorineural deafness)
Commonly asked questions:
Differential Diagnosis of Hemolytic anemias.
Ideal transfusion regime.
Complications of Thal major and Blood transfusions.
Penatal diagnosis.
Diagnosis of hypersplenism.
Chelation therapy
Recent advances in management of Thal major.

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 HEPATOSPLENOMEGALY, JAUNDICE AND PORTAL HYPERTENSION
History:
Jaundice: Onset of Jaundice
Past history of jaundice – (Wilson’s disease, Autoimmune hepatitis, Hemolytic anemia)
Associated with high colored urine +/- clay colored stools (Obstructive jaundice)

Abdominal distension: Progressively increasing (organomegaly, ascitis), Associated

with pain: hepatitis
History of etiology: History of blood transfusion in past, Neonatal umbilical
catheterization, Family history of hemolytic anemia, jaundice, History of drug ingestion.
Immunization for Hepatitis B, Hepatitis A.Skin rash, joint pain (Autoimmune hepatitis)
History of complications: Bleeding from any site, Altered sensorium, altered sleep
pattern, Black colored stools, Ascitis, Night blindness, limb deformity, chelitis (Vitamin
deficiency). Fever, pallor, petechie (for hypersplenism).

Examination:
General examination: Jaundice, Signs of liver cell failure, Anthropometry to rule out FTT,
K-F ring, Fundus for chorioretinitis, signs for Vitamin Deficiencies, Edema, anasarca,
Clubbing, Anemia, Flapping tremors, Doll’s facies.

Abdominal examination:
Inspection: Localized bulge, distension (which quadrant is more affected), prominent
veins – direction of flow, hernial orifices, scars and sinuses
Palpation:
Superficial palpation: Guarding, tenderness, rigidity
Deep Palpation: Hepatomegaly- Tender/Nontender
Surface: Smooth/Nodular
Span and Size
Border: well felt/ sharp/diffuse
Consistency: Soft/firm/hard
Splenomegaly - Size (Grades of splenomegaly)
Consistency: Soft/firm
Splenic notch
Kidneys/Divarication of recti/ Hernial sites
Percussion: Shifting dullness/horseshoe dullness/fluid thrill. Puddle’s sign
Auscultation: Renal Bruit, Venous hum.
Diagnosis: Chronic hepatitis with hepatosplenomegaly with/without jaundice,
with/ without portal hypertension, with/without ascitis, with/without signs of liver cell
failure. Most likely etiology being : Autoimmune hepatitis/ Infective Hepatitis/
Wilson’s disease/ Drug Induced Hepatitis/Inborn error of Metabolism /
Storage disorder.
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Investigation:
Biochemical / Special Etiological Morphological tests Liver biopsy
Routine tests Tests
USG abdomen Staining with HE
LFT including
PT/PTT HbsAg, Anti HCV,
OGD scopy and PAS.
S. Bilirubin HIV
SGOT/SGPT
S.ceruloplasmin Slit Lamp-
Alk.PO4
Total Proteins 24 hours urine KF ring
/albumin copper
RBS ANA, dsDNA,
CBC with Retic. Anti LKM
Antitrypsin levels
Count

Treatment:
General measures: Proper nutrition and multivitamin supplementation,Vitamin K
supplementation, Sclerotherapy for oesophageal varices, Diuretics and salt restriction for
ascitis.
Specific measures: For Autoimmune hepatitis: Steroids. For Infective hepatitis:
Interferon/Ribavarin/ Lamivudine. For Wilson’s disease: Penicillamine. For Drug Induced
hepatitis : Avoid specific drug.

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 NEONATAL CHOLESTASIS - HISTORY TAKING AND
EXAMINATION
C/O Jaundice: Onset of Jaundice
Associated with high colored urine +/- clay colored stools
(Obstructive jaundice)
Well child or ill looking infant
Abdominal distension: Progressively increasing (organomegaly, ascitis)
History of etiology: Maternal history of drug ingestion, jaundice / infection in pregnancy,
Neonatal umbilical catheterization
Associated skin rash, petechie, fever, cardiac disease
Full term or preterm
Dysmorphic features
Family history of hemolytic anemia
History of complications: Bleeding from any site
Altered sensorium
Ascitis
Examination: General examination: Jaundice,
Fundus for chorioretinitis
Signs for Vitamin Deficiencies
Edema, anasarca
Anemia
Dysmorphic features (Chromosomal, Alagille)
Cataracts
Abdominal examination:
Inspection: Localized bulge, distension (which quadrant is more affected)
Palpation: Superficial palpation: Guarding, tenderness, rigidity
Deep Palpation: Hepatomegaly- Tender/Nontender
- Surface: Smooth/Nodular
- Span and Size
- Border: well felt/ sharp/diffuse
- Consistency: Soft/firm/hard
: Splenomegaly - Size (Grades of splenomegaly)
- Consistency: Soft/firm
- Splenic notch
Kidneys/Divarication of recti/ Hernial sites
Percussion: Shifting dullness/horseshoe dullness/fluid thrill. Puddle’s sign
Auscultation: Renal Bruit, Venous hum
Other systems: Cardiac murmur, hydrocephalus, Meningitis

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 Specific clinical features

Disorders Abnormal physical signs

Hepatic or biliary hemangioma Cutaneous hemangiomata

Extrahepatic biliary atresia Situs inversus

Biliary hypoplasia Systolic murmur, abnormal facies, embryotoxon

Generalized viral infections Skin lesions, purpura, chorioretinitis, myocarditis etc.

Galactosemia, hypoparathyroidism Cataracts

Trisomy 21 ,13 or 18 Multiple congenital anomalies

Choledochal cyst Cystic mass below the liver

Diagnosis: Neonatal jaundice with/without hepatosplenomegaly,

With/without ascitis
With/without dysmorphic features
With/without anemia
With/without associated anomalies
Most likely etiology being : Neonatal Hepatitis / Biliary atresia / Inborn error of
Metabolism / Galactosemia/ Chromosomal disorder

Investigation:

Jaundice in newborn

Conjugated jaundice Unconjugated jaundice

Infective: Viral :CMV, Rubella, Reovirus III, Hep B

Bacterial: E. Coli, Listeria,
Protozoal: Toxoplasma
Inherited : Niemann-Pick Type C, Galactosemia,
Alpa-1 antitrypsin deficiency, Biliary Hypoplasia (Syndromic),
Cholestasis with actin and microfilament accumulation,
Progressive intrahepatic cholestasis
Chromosomal Anomalies: Trisomy 13/18/21
Idiopathic
Biliary atresia – Neonatal Hepatitis
Choledochal cyst

Miscellaneous: TPN, Hypothyroidism, Maternal alcohol

Ingestion, Erythromycin estolate, Frusemide
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 Investigation:

Biochemical/ Special Etiological Morphological Other tests Histopathology

Routine tests Tests
Tests
LFT including Blood culture USG abdomen X-ray spine: Staining with HE
Bilirubin Urine culture Hepatobiliary (Alagille) and PAS.
SGOT/SGPT/GTP/ Stool culture Scan X-ray chest:
Alk.PO4 CRP Cholangiogram (Cardiomegaly)
PT/PTT VDRL (Peroperative/ Fundoscopy:
Total proteins TORCH titres Laproscopic) (Chorioretinitis)
RFT (Both of child and mother)
Hemogram HbsAg, HIV
S.electrolytes Test for Galactosemia
S.Ammonia Antitrypsin levels
VBG UAA/PAA
RBS Thyroid function tests

Treatment:
General measures:
Proper nutrition and multivitamin supplementation in cholestatic doses
Vitamin K supplementation
Phenobarbitone
Cholestyramine/Urodeoxycholic acid
Specific measures: Toxoplasmosis: Sulphamethaxazole, pyrimethamine
Galactosemia: Galactose free diet
Biliary Atresia: surgical intervention
Choledochal cyst: Surgical intervention

93
 RHEUMATOID ARTHRITIS
Informant: Name, age, sex, residence, community.
History:
Joints: Pain, swelling, joint restriction
Large/small joints involved or both
Number of joints involved
Pain: Acute/chronic joints involved
Early morning/continuous (morning stiffness is seen in JRA and post
infectious arthritis)
Duration/ course of pain
Swelling: warmth, redness
Deformity
TM joint, cervical spine, cricoarytenoid (hoarse voice), hip and back (pauciarticular type 2)
H/o infection/ trauma to joint/ stress/ rash/hematuria (SLE, Reiters)
H/o fever high grade with chills retuning to baseline (JRA)
H/o any fractures/asymmetrical growth (steroids/periarticular osteopenia)
H/o eye watering/ pain/ photophobia/ redness/ rash (JRA)
H/o easy fatigability particularly after school in the early afternoon (JRA)
H/o fever, preceding sore throat, fleeting joint pains, cardiac symptoms (Rheumatic
fever)
H/o oral ulcers/ facial rash/ photosensitivity/ alopecia (SLE)
H/o monoarticular arthritis/ cough/ Koch’s contact (Koch’s)
H/o travel, enteric illness in the family, exposure to sick pets (Reactive arthritis
following an enteric infection.)
H/o exposure to tick- (lyme arthritis)
H/o pauciarticular arthritis of small joints of the hands and ankle (psoriatic arthritis)
H/o loose motions/ mucus/ chronic diarrhea with pauciarticular arthritis affecting joints in
the lower extremities (IBD)
H/o Repeated severe systemic infections with peripheral arthritis (CVID or X- linked
agammaglobulinemia)
H/o chest pain (JRA, SLE with associated pericarditis or costochondritis)
H/o back pain (JRA, spondyloarthropathy)
H/o abdominal pain (serositis/ mesenteric adenopathy.)
H/o blood transfusions/ bleeding from sites/ family history of bleeding disorder
(Hemophilia)
H/o drugs/ vaccines/ sera
H/o pallor/ blood tranfusion/ abdominal pain/small joint involvement (Sickle cell anemia)
H/o fever, decreased appetite/ bone pain (ALL)
H/o bleeding gums/ limb pains (scurvy)
H/o treatment taken-response/compliance/ complications.
Family history-ankylosing spondylitis, reiters arthritis, IBD.
Other history details: Birth, diet, development, immunization, Socioeconomic

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EXAMINATION
VITALS & ANTHROPOMETRY
Pallor/ icterus/ cyanosis/ clubbing /lymphadenopathy/ oral ulcers
Eyes—episcleritis (lupus), posterior synechiae (JRA)
Muscle weakness (dermatomyositis and mixed connective tissue disease).
Joint examination
 Single or poly
 Symmetrical/asymmetrical
 Rash/ nodules over pressure points
 Check cervical spine/mouth opening/
- side to side movt: atlantoaxial joint
- Touching chin to shoulder and chest: lower cervical spine.
- TM joint tenderness-put finger in ear and ask patient to open Mouth and say
Ah (Micrognathia suggests chronic TM joint involvement)
 Asymmetric limb length
JOINT EXAMINATION:
Inspection- swelling, shiny stretched skin, redness, scars
Palpation - warmth, tenderness, fluctuation, synovial thickening, patellar tap.
Extreme joint tenderness, high spiking fevers and migratory or additive polyarthritis
suggests rheumatic fever.
Movements
Tenderness over insertion of ligaments and tendons- Spondyloarthropathy
Other system examination
P/A--- -Liver, spleen, ascites.
CVS----pericarditis (pericardial friction rub with orthopnea)
RS-----pleuritis, rales.
CNS-----chorea
Diagnosis :
Acute/ chronic, duration, Pauci/ polyarticular arthritis of--------- joints, With/ without
systemic features, With etiology, With final classification, With/ without complications of
Rx.
Investigations:
CBC: WBC increased, platelet count increased, Hb decreased, MCV decreased
ESR- increased, CRP- increased
Sr. immunoglobulins- increased
ANA positive in 40-85% of all children with pauci or polyarticular JRA. Other conditions
with ANA positivity are -ITP, Crohns, chronic autoimmune hepatitis, Graves, malaria,
parasitic infection, drugs (phenytoin, ethosuximide, procainamide), leukemia, lymphoma.
Rheumatoid factor-should be done in older children with polyarticular involvement and in
children who develop rheumatoid nodules.
LDH-elevated in JRA
Thyroid function-When child presents with muscular weakness

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Albumin decreased and Sr. protein- nephrosis and IBD
X-ray of the involved joint-skeletal dysplasias associated with a degenerative
arthropathy
Bone scans or MRI- early osteomyelitis or malignancies. MRI studies with gadolinium
can reveal tissue abnormalities in JRA, dermatomyositis and sarcoidosis.
2D ECHO- pericardial involvement

96
 NEPHROTIC SYNDROME
Nephrotic syndrome is characterized by 4 components: proteinuria, hypoalbuminemia,
hypercholesterolemia and edema , the primary being proteinuria.
History :
Presenting complaint – Reason for current admission
Current symptoms-
General health ( anorexia, weight gain, lethargy, poor height gain)
Oedema (periorbital or ankle edema / anasarca , ascites)
Urinary- (hematuria, oliguria, concentrated urine)
Past history
Initial diagnosis ( when, where, presenting symptoms , initial investigations, established
etiology, initial treatment) , number of episodes per year ( usual precipitants , usual
treatment ) , number of hospitalizations, sequence of complications and management .
Management
Current diet , medications , management problems, present treatment in hospital usual
management at home, , home urine testing, drug effects, sequence of drug used,
compliance, future treatment plan , usual follow up.
Social history
Disease impact on the child (amount of school & play missed ), Impact on family (
financial constraints)
Understanding the disease by the child
Immunisation , dietary & Developmental history.
Examination
General – Position of the patient , mental state( irritable, altered )
- Vitals – pulse, Respiratory rate , BP & Temperature
- Sick / well
- Growth parameters .
- Tanner staging
- Nutrition & BCG mark
- Demonstrate distribution of edema-Ankle and leg, periorbital, sacral, ascites,
Pleural effusions & anasarca
- Skin- sallow, pallor, jaundice, petechiae, pyoderma marks
- Peritoneal tap marks
- Signs of steroid toxicity
- Signs of dehydration
- Joints( SLE, non MCNS)
Systemic examination –
Inspection – skin- scars, generalized distention , swelling.
Palpation – tenderness , guarding, abdominal wall edema,
- deep- kidneys ballotable ( nephromegaly),lymphnodes.
Percuss – fluid assessment – puddle sign, shifting dullness, horseshoe shaped

97
 dullness, fluid thrill. Percuss the bladder
Auscultate
Genetalia – scrotal edema
Other systemic examination - As usual
Diagnosis : Child with anasarca and urinary disturbances (oliguria/ hematuria) , initial /
episodic , without hypertension, with / without complications , most probably renal cause -
MCNS/Non MCNS , Steroid responsive / non responsive.
Investigations
Urine – Specific gravity, PH, Casts, routine and microscopy , pus cells, blood &
Proteins. Quantify proteins loss – 24 hr u. protein estimation , albumin/ creatinine
Serology- Complete hemogram - CBC, ESR, Peripheral smear.
- BUN, S.Creatinine, and electrolytes
- Albumin and total proteins
- S.Cholesterol & lipid profile
- Complete hemogram – CBC , ESR ( usually above 100 mm HG)
- For secondary NS/Frequent relapser- Hepatitis B serology , ANA , Ds DNA
VDRL, and C3
Imaging – Xray chest if required ( TB, pleural effusion )
USG abdomen – kidney architecture & ascites and organic pathlology.

Management :
Hospitalize if first episode with severe edema and Nephrotic syndrome with complications
Diet - Salt restricted diet. Fluids based on output. Food with high biological value
proteins.
Rule out infection precipitated nephrotic syndrome ( CBC, Blood culture , urine ,
Peritoneal tap if peritonitis is suspected & underlying tuberculosis
Diuretics- judiciously
Corticosteroids – Initial episode - 2mg/kg/day (60mg/m2/day) in three divided doses for
1 month followed by 1.5 mg/kg/day ( 40 mg/m2) on alternate day -in the
morning a day for another month.-
For relapse- Daily predinisolone 2 mg/kg/day till urine become negative / trace
for 3 consecutive days followed by 1.5 mg/kg/day every alternate day for 1
month. Second agents- Cyclophosphamide, chloambucil, levamisole
Activity , immunizations – looked into
Monitoring - growth , steroid toxicity, urine proteins & complications of NS

98
Commonly asked questions :
Basic definitions - relapse, remission , frequent / infrequent relapser, steroid dependant
NS, resistant NS, nonresponder.
Methods to detect proteinuria.
Difference between nephrotic syndrome / nephritis
Indications for renal biopsy
Indications for second line agents.
Common infections & Complications of Nephrotic syndrome
Types of Nephrotic syndrome with prognosis
Management of non MCNS nephrotic syndrome
Congenital nephrotic syndrome & Secondary causes of nephrotic syndrome
Causes of anasarca

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 Evaluation Form

Name ---------------------------------------------------------------------------------------------------
Address---------------------------------------------------Hospital ---------------------------------
Tel No: _________________________________ Email_________________________

 What are your comments regarding this programme?

 How do you rate the practical content of the Programme?

Excellent / Good / Average / Poor

 Do you think such programmes benefit the post graduate

students ?

 Any views / comments for future CMEs :

 Any other comments?

Jgd

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 Quiz Answers

Name ------------------------------------Appearing for -------------- exams

1.
2.
3.
4.
5.
6.
7.
8.
9.
10.
11.
12.
13.
14.
15.
16.
17.
18.
19.
20.
21.
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Special Thanks ……………

The Management of B.J.Wadia Hospital for Children.

Administration staff of B.J.Wadia Hospital for Children.

Senior Faculty Teachers .

Medical staff of B.J.Wadia Hospital for Children.

Pharmaceutical Companies for sponsorship

Wadia Library Staff

Residents of The B.J. Wadia Hospital for Children.

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