Clostridium botulism

- Ingestion of spores (dust) or foodborne (preformed toxin, honey)

- Descending flaccid paralysis (ptosis, sluggish pupillary reflex, poor suck, poor
gag reflex, hypotonia, drooling, constipation)
- Tx: botulism antitoxin
Duchenne/Becker Dystrophy
- XR; dystrophin gene
- Duc: age 2-3; Beck: age 5-15
- Progressive weakness, Gower maneuver, calf pseudohypertrophy, high CPK,
slight impaired intellect
- Complications: scoliosis, cardiomyopathy
- Wheelchair dependent; Duc death by 20-30; Beck death by 40-50 from heart
or resp fail
Myotonic Dystrophy
- AD; CTG repeat; age 12-30
- Facial weakness, hand grip myotonia, dysphagia, temporal wasting,
cataracts, balding, testicular atrophy/infertility, arrhythmia
- EEG: repetitive discharge with minor stimulation (myotonic)
Spinal muscular atrophy
- Symmetric proximal muscle weakness, hyporeflexia
Phenylketonuria
- AR; phenylalanine hydroxylase; buildup of phenylalanine; deficient tyrosine
- Intellectual disability, seizure, musty odor, hypopigementation (fair
complexion)
- Dx: newborn screen mass spec, quantitative amino acid analysis
- Tx: low phenylalanine diet
Sudden infant death
- Avoid: smoking or 2nd hand, prone/side sleep, soft surface, bed sharing,
premature
- Good: supine, firm surface, room sharing, pacifier
Intellectual disability
- Fetal alcohol syndrome
o Smooth philtrium, thin vermillion border, small palpebral fissure,
microcephaly (impaired neuronal migration)
- Down syndrome
o Flat face, slanted palpebral fissure, small low set ears, excessive skin
at neck, single transverse palmar crease, large space between first 2
toes
- Fragile X syndrome
 o Males: long narrow face, large ears, large head, large balls, large
forehead/chin, hyperextensible joint, prominent thumb, mental
retardation
In females, half are mentally retarded
o CGG repeat

Seizure vs vasovagal vs cardiogenic syncope

- Seizures: might have aura, LOC, tonic/clonic, tongue laceration, POST ICTAL
STATE
- Vasovagal: long standing or emotion, presyncope (light headed, diaphoresis),
immediate return to baseline
- Cardiogenic: exertion, dehydration; sudden loss of consciousness without
prodrome, immediate return to baseline
Complex: LOC; generalized: most of brain (both sides)
Todd paralysis: post ictal; focal weakness after a seizure
Absence seizures
- Starring spells, preserved muscle tone, unresponsive, short duration of
seconds, automatism (lip smacking, blinking), no postictal state, generalized
seizure
- EEG: 3 Hz spike wave
- Tx: ethosuximide (divalproex sodium or valproate)
- Increased risk of ADHD and anxiety
Jacksonian march
- Progressive: shaking of hand, then forearm, then entire arm
Juvenile myoclonic epilepsy
- Myoclonic jerks with waking up and then generalized seizures
Lennox Gastaut
- Intellectual disability + severe seizure; common in tuberous sclerosis
- EEG: slow spike wave pattern; 1-2 Hz
Infantine spasms (West Syndrome)
- EEG: hypsarrhythmia (high amplitude spikes); common in tuberous sclerosis
- Tx: ACTH
Tay Sachs
- B hexosaminidase deficiency
- Loss of motor milestone, hypotonia, feeding difficulty, cherry red macula,
HYPERreflexia
Neimann Pick
- Sphingomyelinase deficiency
 - Loss of motor milestone, hypotonia, feeding difficulty, cherry red macula,
AREFLEXIA, HEPATOSPLENOMEGALY
Gaucher
- Glucocerebrosidase deficiency
- Accumulate glucosylceramide
- Anemia, thrombocytopenia, HSM (bone deposition-cytopenia)
Krabbe
- Galactocerebrosidase def
- Blindness, deafness, seizures, paralysis, intellectual disability
Fabry
- A-galactosidase def
- Angiokeratoma, corneal dystrophy, peripheral neuropathy, thrombotic events
Huler
- Lysosomal hydrolase deficiency
- Corneal clouding, hernia, HSM
G6PD Von Gierke disease (type 1)
- Deficient glucose 6 phosphatase
- Glycogen accumulates in liver (hepatomegaly), seizure (hypoglycemia), lactic
acidosis (ketones)
- Doll like face, large abd (HSP)
Metachromatic leukodystrophy
- Nerve biopsy: shows sulfatide in Schwann cells
- Absent arysulfatase A
- Ataxia, retardation, spasticity
Galactose 1 phosphate uridyl transferase deficiency
- Failure to thrive, lethargy, bilateral cataracts, jaundice, hypoglycemia,
hepatomegaly
Galactokinase deficiency
- Just cataracts
Hartnup disease
- Intestinal malabsorption of tryptophan and other neutral AA
- Tryptophan is precursor for niacin/nicotinamide
- Red scaly rash and developmental delay, ataxia
- Give pts niacin
Lesch Nyhan
- X recessive
 - Hypoxanthine guanine phosphoribosyl transferase (HPRT) deficiency
- Self mutilation, hypotonia, vomiting, choreoathetosis, spasticity, gout, tophus
- Allopurinol to reduce uric acid
Prader Willi
- Hyperphagia, obesity, intellectual disability
- Paternal 15 deletion
Angelman
- Happy puppet, ataxia, seizure
- Maternal 15 deletion
Homocystinuria
- AR; Joint and skin hyperlaxity, tall statue, long arms and legs
- INTELLECTUAL DISABILITY, THROMBOSIS/STROKE, DOWNWARD LENS
DISLOCATION, MEGALOBLASTIC ANEMIA
Marfan
- AD: Joint and skin hyperlaxity, tall stature, long arm and legs
- Normal intellect, aortic root dilation, upward lens dislocation
Brain abscess
- Fever, headache, FND, seizure (nocturnal headaches, morning vomiting)- high
ICP
- Increased risk with sinus/otitis/dental infection and congenital heart disease
- CT scan with contrast or MRI: ring enhanced lesion
Hydrocephalus in kids
- Bulging fontanelle, prominent scalp vein, widely spaced cranial suture,
increasing head circumference
- Get CT scan
Friedrich Ataxia
- AR; trinucleotide repeat; spinocerebellar atrophy
- Unstead gait, LE weakness, ataxia, sensory deficits like vibration/position
sense, absent reflex , feet high plantar arches, scoliosis, club foot
- MRI: cervical spinal cord atrophy and some cerebellar atrophy
- Cardiac muscle fiber degeneration and necrosis- cardiomyopathy

Neurofibromatosis 1
- Caf au lait spots, axillary/groin freckling, learning problem, fibromas, lisch
nodules (iris hamartoma)
- Optic glioma
- MRI
- Chromosome 17
Neurofibromatosis 2
- Caf au lait spots, bilateral acoustic neuroma, cataract, meningioma
- MRI with gandolinium to evaluate for acoustic neuroma
- Chromosome 22
Sturge Weber
- Port wine stain or nevus flammeus on trigeminal distribution, seizures, mental
retardation, cavernous hemangioma, angioma, glaucoma
- Tramtrack, gyriform intracranial calcification, Homonymous hemianopsia
Tuberous sclerosis
- Autosomal dominant; variable penetrance
- Sebaceous adenoma, ash leaf hypopigemented spot, shagreen patches,
periungual fibroma, seizures, calcified subependymal glial nodules
- Angiomyolipoma (renal), cardiac rhabdomyoma, subependymal nodules
calcified
Von Hippel Lindau (VHL)
- Lots of tumors in KIDNEY/liver/retina/cerebellum; hemangioblastoma esp in
cerebellum that bleed easily- surgery to remove, telangiectasia in eyes
- Chromosome 3: ERYTHROCYTOSIS + CEREBELLAR SIGNS
- Ataxia, high hematocrit, protein and RBC in urine
Red flags: morning vomiting, nocturnal headaches
Neuroblastoma
- Neural crest cell (high vanillylmandelic acid or homovanillic acid) from
sympathetic chain or adrenal medulla
- Abdominal mass; calcification
- Compared to Wilms tumor: from metanephros of kidney
Craniopharyngioma
- Calcified suprasellar tumor; bitemporal hemianopsia, pituitary hormone def
(diabetes insipidus, growth hormone def)
- MRI/CT: clacified tumor
Medulloblastoma
- 2nd most common; posterior fossa; cerebellar vermis; ataxia; obstructive
hydrocephalus (impinge on 4th ventricle- high ICP-vomit, headache)
- Leptomeningeal dx possible
Pituitary adenoma
- Usually in adults; bitemporal hemianopsia; no calcification
Cerebellar astrocytoma
- Most common; posterior fossa
Parinaud syndrome
- Pressure on pretectal midbrain, pineal tumor
- Limited upward gaze, bilateral eyelid retraction
Cephalohematoma: subperiosteal; limited to one cranial bone; no discoloration; no
tx
Caput succedaneum: ecchymotic swelling of scalp; across midline and can cross
suture lines
Migraines common in kids
- Supportive management first: lying in dark, quiet room, cool cloth,
acetaminophen or NSAIDs
- Then try triptans
Headache that needs imaging: focal neurological deficits, wakes them up from
sleep, worse in morning with waking up, increased frequency
Abuse
- Shaken baby syndrome: shearing of dural veins, coup-countercoup injury,
retinal hemorrhage
- Story doesnt make sense, multiple fractures or bruises in different healing
stages, child poorly kept, bruises on neck/abdomen, injury to
genitalia/hand/back/butt; lack of emotion toward child; injury inconsistent
with childs development stage
- Admit to hospital; notify child services
Cerebral palsy
- Static encephalopathy: injury to brain does not progress
- Spastic, ataxic or dyskinetic; nonprogressive motor dysfunction
o Hyperreflexia and hypertonia and intellectual disability
- Risk factor: prematurity
- Baclofen or botulism for spasticity
Bacterial meningitis
- Fever, increased ICP (vomit, AMS, HA), nuchal rigidity
- Complications: hearing loss (audiological screening), intellectual disability,
cerebral palsy, epilepsy
Febrile seizure
- Age 6mo-6 years and fever
- Reassurance and education; abortive therapy if seizure>5 mins
Traumatic brain injury
- Head CT without contrast
o Focal neurologic deficits, loss of consciousness, skill fracture, seizure,
persistent altered mental status
 - Observation for 4-6 hrs or head CT without contrast
o Vomiting, headache

Internal carotid dissection

- Posterior oropharyngeal injury like brushing teat
- Hemiplegia, thunderclap headache, neck pain, aphasia
- CT or MR angiography
Premature complication
- Respiratory distress syndrome
- Bronchopulmonary dysplasia
- Patent ductus arteriosus
- Necrotizing enterocolitis
- Intraventricular hemorrhage (U/S shows ventricles filled with white stuff aka
blood)
- Retinopathy of prematurity
Testosterone abuse
- Aggression, male pattern baldness, gynecomastia, decreased testicular size
and sperm count, acne
Abetalipoproteinemia
- Absent chylomicrons, VLDL, LDL due to mutation in microsomal triglyceride
transfer protein, acanthocytes RBC
- Worsening ataxia; generalized weakness; peripheral neuropathy (decreased
vitamin E)
Mongolian spot: oval, well circumscribed, flat, hyperpigmented
Spina bifida occulta: dimple; tuft of hair
Meningocele: evagination of meninges through defect
Meningomyelocele: meningeal and neural elements
Encephalocele: defect in skull; protrusion of brain
CMV: periventricular calcification
Toxoplasmosis: intracranial calcification
Syndenham chorea: involuntary movements; restless child; anxious; autoimmune
disorder of basal ganglia