SPINA BIFIDA

SPINA BIFIDA IS A TYPE OF NEURAL TUBE DEFECT

Spina bifida is a birth defect where there is incomplete closing of the
backbone and membranes around the spinal cord.
It is a developmental congenital anomaly
Causes:
▪ Specific isunknown.
▪ Multiple factorssuchas heredity and environment arethought to
interact to produce thesedefects.
▪ The following have been identifiedas causative factors:
I. lowlevelsof maternal vitamins(B 9),includingfolicacid;
II. obesity
III. uncontrollable diabetes
IV. medication that interferewithfolate metabolism
V. hyperthermia duringpregnancy.
 PATHOPHYSIOLOGY
Ectoderm outer most layer of
fertilized egg develop a ridge, that
eventually become neuraltube.

This neural tube form Spinal cord,

Brain, Meninges

Spina bifida occur when a portion of

neural tube fail to close properly .
This lead to defect or absence of
vertebral arches to do failure of
mesoderm to organize the defect.
 TYPES
SPINA BIFIDA

Spina Bifida Meningocele Myelomeningocele

Occulta
 SPINA BIFIDA
SPINA BIFIDAOCCULTA MENINGOCELE MYELOMENINGOCELE

Most commonandleastsevere Least commonandnotverysevere Most severe

No protrusionsoftissueandspinal Onlymeningesareinvolvednotthe Spinalcordandsurrounding

cord spinalnerve meninges
areinvolved
At mostpeoplehavetuftofhair, Protrusionthatincludesthe Spinal cord and meninges protrude
dimple or birthmark meninges andasaccontaining out ofthevertebrae heldtogetherby
(CSF) sacof skin

Usually nosymptms Hydrocephalus, Spastic Loss ofsensation,paralysis,bladder

weakness small sized head, or bowel problem ,seizures, leg
Seizures Uncoordinated deformities
musclemovements Delayed
developmentalmilestones
Vision problems,Seizures
 LABORATORYAND
DIAGNOSTICTESTS
▪ X-Rays- spine and skull
▪ MRI-spine andskull
• Prenatally itcan be diagnosed by following screening tests,
though these arenon-specific:
▪ SerumAlpha Fetoprotein levels increases
▪ Ultrasonography
▪ Amniocentesis
▪ Blood test
 Hydrocephalus
• From Greek hydrokephalos, from
hydr- + kephalE head

• Definition: An abnormal increase

in the amount of cerebrospinal
fluid within the cranial cavity that
is accompanied by expansion of
the cerebral ventricles,
enlargement of the skull and
especially the forehead, and
atrophy of the brain
 Overview of CSF production
• The CSF volume of an
average adult ranges from
80 to 160 ml
• The ventricular system
holds approximately 20 to
50 ml of CSF
• CSF is produced in the
choroid plexuses at a daily
rate of 14-36 ml/hr
• The choroid plexuses are
the source of
approximately 80% of the
CSF
• The blood vessels in the
subependymal regions,
and pia also contribute to
the formation of CSF
• The CSF flows from the
lateral ventricles
downward to the
foramina of Magendie and
Luschka, to the
perimedullary and
perispinal subarachnoid
spaces, and then upward
to the basal cistern and
finally to the superior and
lateral surfaces of the
cerebral hemispheres
Mechanisms of increase intracranial pressure

• Brain, Blood and CSF

are held in an inelastic
container (cranium,
vertebral canal and
dura)
• Changes in volume of
either element
(Brain,CSF, Blood) is at
the expense of the
other two
 Hydrocephalus
Communicating vs. Non-communicating (Dandy)

• This is an old
classification of
hydrocephalus
• The terms refer to the
presence or absence
of a communication of
the lateral ventricles
with the spinal
subarachnoid space
 Communicating vs. Non-communicating

• This classification was based

on the imaging findings after
injection of dye into the
ventricular system and
simultaneous injection of air
into the subarachnoid space
• Diffusion of dye into the
subarachnoid space and
passage of air into the
ventricular space were the
criteria for communicating
hydrocephalus
 Aqueductal stenosis

• The normal aqueduct

measures about 1 mm
in diameter, and is
about 11 mm in
length.
 Aqueductal stenosis
• Is the most common cause
of congenital
hydrocephalus(43%)
– Aqueduct develops
about the 6th week of
gestation
– M:F = 2:1
– Other congenital
anomalies (16%): thumb
deformities
– Prognosis: 11-30%
mortality
 Etiology of aqueductal stenosis
• Intrinsic Pathology of the
Aqueduct
• Septum or Membrane Formation: A thin
membrane of neuroglia may occlude the
aqueduct. It commonly occurs caudally.
There may be a primary developmental
defect or it may follow granular ependymitis
from intrauterine infections. This is the rarest
of the types of narrowing.
• Forking of the Aqueduct:Typically, there are
two channels seen in midsagittal plane
unable to handle CSF volume. Most often
seen with spina bifida.
• Gliosis of the Aqueduct: Usually of infectious
origin showing a marked gliofibrillary
response. The lumen is devoid of ependyma.
• Stenosis of the Aqueduct: Narrowed
aqueduct without evidence of gliosis. This
may have hereditary basis.
 Etiology of aqueductal stenosis
• Extrinsic Pathology of the
Aqueduct:
• Infectious. Abscesses.
• Neoplastic. Pineal tumors,
brainstem gliomas,
medulloblastoma,
ependymoma.
• Vascular. AVM, aneurysm, Galen
aneurysm.
• Developmental. Arachnoid cysts.
 Clinical features of aqueductal stenosis
• Obstructive
hydrocephalus: presents
with macrocephaly and/or
intracranial hypertension.
• Parinaud's syndrome.
Inability to elevate eyes
• Collier's sign. Retraction of
the eyelids
 Imaging of aqueductal stenosis
• Ultrasonography can
detect aqueductal
stenosis in utero.

Sonogram
 Imaging of aqueductal stenosis
• CT and MRI. MRI is
essential if third
ventriculostomy is to
be considered.
 Treatment of aqueductal stenosis
• Treatment and Results
• Remove underlying cause of
obstruction if possible.
• Third ventriculostomy as initial
treatment of choice.
• VP shunt if technical reasons do
not allow third ventriculostomy or
if the child fails after
ventriculostomy.
• Aqueductal stent can be placed if
technically feasible. Usually rarely
done due to risk of upper brain
stem injury.
 Communicating hydrocephalus
• In communicating or
non-obstructive
hydrocephalus there is
communication
between the ventricular
system and the
subarachnoid space.
The commonest cause
of this group is post-
infectious and post-
hemorrhagic
hydrocephalus.
 Causes of communicating
hydrocephalus
• Overproduction of CSF
• Blockage of CSF
circulation
• Blockage of CSF
resorption
• Hydrocephalus ex-
vacuo
• Normal pressure
hydrocephalus
 Overproduction of CSF
• Excessive secretion of
CSF by the choroid
plexus as in cases of
choroid plexus
papilloma or
carcinoma. This is a
rare cause.
 Blockage of CSF circulation
• This could be at any level of the
CSF circulation. It could be at
the level of the foramen of
Monro, with either unilateral or
bilateral occlusion of the
foramen of Monro giving
dilatation of one or both lateral
ventricles. This is commonly
seen in the colloid cyst and
tumors of the third ventricle.
 Dandy Walker Syndrome
• A common cause of
obstructive hydrocephalus
is Dandy Walker
Syndrome where there is
blockage of foramina of
the 4th ventricle. This is a
congenital condition
associated with agenesis
of the cerebellar vermis
 Blockage of CSF resorption
• Poor resorption of CSF
into the venous
sinuses caused by
scarring of the
arachnoid villi and is
commonly seen after
meningitis or
hemorrhage
 Hydrocephalus Ex Vacuo
• Hydrocephalus ex-vacuo
involves the presence of too
much CSF, although the CSF
pressure itself is normal. This
condition occurs when there is
damage to the brain caused by
stroke or other form of injury
or chronic neurodegeneration,
and there may be an actual
shrinkage of brain substance.
 Normal pressure hydrocephalus
• Normal pressure
hydrocephalus (NPH) is usually
due to a gradual blockage of
the CSF drainage pathways in
the brain. NPH is an unusual
cause of dementia, which can
occur as a complication of brain
infection or bleeding
(hemorrhage).
 Normal pressure hydrocephalus
• In some patients, no • Symptoms progressively
predisposing cause can be
identified. worsen over weeks. In some
• In patients with NPH, although patients, an improvement of
the ventricles enlarge, the symptoms is noted
pressure of the CSF remains immediately after the removal
within normal range.
of spinal fluid with a lumbar
• NPH is characterized by gradual
memory loss (dementia), balance procedure.
disorder (ataxia), urine
incontinence, and a general
slowing of activity.
 Treatment of hydrocephalus
• The two most commonly used
shunt systems are the
ventriculoatrial (VA) and
ventriculoperitoneal (VP)
shunts. The VP shunt is most
commonly used as it is simpler
to place, extra tubing may be
placed in the peritoneum and
the consequences of infection
are less.
 Treatment of hydrocephalus
• The VA shunt must be
accurately located in the atrium
and requires frequent revisions
as the child grows to maintain
the proper position of the distal
end. In addition, infection is a
more serious complication with
a VA shunt as its location in the
blood stream may lead to
sepsis.
 Treatment of hydrocephalus
• Recently, in situations where both the
abdomen and vascular system can no
longer function to absorb CSF,
Pediatric Neurosurgeons have begun
to place the distal catheter in the
pleural space (V-PL shunt). The distal
catheter is placed through a small
incision in the anterior chest wall. As
with the peritoneal shunt, extra tubing
can be placed, reducing the need for
further shunt revisions.

•
 Treatment of hydrocephalus
• Shunt systems include three
components: (1) a ventricular
catheter, (2) a one way valve
and (3) a distal catheter. The
ventricular catheter is a straight
piece of tubing, closed on the
proximal end and usually with
multiple holes for the entry of
CSF along the proximal two
centimeters of the tube.
 Treatment of hydrocephalus
• Shunts are composed of a
material called Silastic. Silastic is
made from a family of
polymerized organic compounds
termed silicone. Silicone is the
substance that has caused
controversy in breast implants
because of the association with
auto immune disorders. So far
no cases of auto immune
disease have been linked to the
Silastic used in shunts.
 Treatment of hydrocephalus
• The most common sites for entry
of the ventricular catheter are a
frontal position in line with the
pupil at the coronal suture, a
parietal position just above and
behind the ear, or an occipital
position three centimeters off
the posterior midline. The
position used varies with the
configuration of the ventricles,
the shape and size of the head
and the surgeon’s preference.
 Shunt malfunction
• Common complications of
VP shunt include shunt
malfunction or blockage and
infection. Malfunction may
be related to growth and the
shunt will need to be
replaced with a longer
catheter. Symptoms of shunt
malfunction or infection
include headache, fever,
drowsiness,convulsions,
increased head
circumference and bulging
fontanelle.
 Shunt malfunction
• If left untreated, shunt malfunction or infection is associated
with high morbidity and mortality rates. Most patients with
these complications have subtle presentations and nonspecific
signs, despite elevated ICP or CNS infection. The workup
includes a focused review of records, information from the
patient’s family or caretaker, and elements of a unique
examination to supplement routine work-up of the patient with
a ventricular shunt. A shunt series and head CT scan are part of
the initial evaluation. Empiric antibiotic therapy is initiated to
cover Gram-positive organisms, predominantly S. epidermidis,
as well as the less common Gram-negative and anaerobic
organisms responsible for shunt infections.
Osteogenesis imperfecta
What is osteogenesis imperfecta (OI)?

• Osteogenesis imperfecta (OI) is a genetic

disorder that affects the bones.
• This disease causes bones to be very weak and
break with little or no trauma.
• OI is also known as brittle bone disease.
• People with OI also have weak muscles and
bone deformities.
 What are the four main types of OI?

Type I
• Least severe and most common
• More fractures during childhood than
adulthood
• Some children may experience hearing loss
Type II
• More severe
• Underdeveloped bones at birth
• Infants are born with soft skull bones
Type III
• Very severe
• Many infants are born with broken bones
• Poor muscle development
• Curved spine
• Treatment needed throughout life
Type IV
• Can range from mild to severe
• Most children experience most fractures before
puberty
• Shorter than average
• Bowed legs and curved spine
 What causes OI?

• The cause of this mutation (change in a gene)

is unknown and needs to be researched
further.
 What are the symptoms of OI?

• OI symptoms can range based on the severity of the

disease. The most common symptoms are:
• Weak muscles
• Malformed bones
• Loose joints
• Blue or purple sclera (whites of the eyes)
• Problems breathing
• Brittle teeth
• Triangular face
• Bowed legs
• Curved spine
 How is OI diagnosed?

• Physical exam by doctor

• Collagen test
• Family history
• X-rays
 Prognosis
• The outlook for people with OI varies greatly for
each type of the disease.
• Most children born with type I OI live normal,
healthy lives into adulthood.
• Less severe symptoms do not affect life
expectancy.
• Most OI-related deaths result from respiratory
failure due to weak lungs.
• The most severe types will result in death at
birth or soon after.
PES PLANUS
Pes Planus (flatfoot)

A. General
- refers to loss of normal medial long. arch
- usually caused by subtalar joint assuming
an
everted position while weight bearing
- generally common in neonates/toddlers

B. Evaluation
- painful?
- flexible? (hindfoot should invert/dorsiflex
approx 10 degrees above neutral
- arch develop with non-weight bearing
pos?
Pes Planus (flatfoot)
Pes Planus (flatfoot)

C. Treatment
(i) Flexible/Asymptomatic
- no further work up/treatment is necessary!
- no studies show flex flatfoot has increased
risk for pain as an adult

(ii) rigid/painful
- must r/o tarsal coalition – congenital fusion
or
failure of seg. b/w 2 or more tarsal bones
- usually assoc with peroneal muscle spasm
- need AP/lat weight bearing films of foot
Cranial Birth Defect
 Acrania
• Acrania is complete or partial absence of the
neurocranium (brain box) that may be
accompanied by extensive defects of the
Vertebral Column

• Associated with Meroencephaly (neural tube

fails to close) at 4th week
 Craniosynostosis
• Prenatal fusion of the cranial sutures

• Causes is unclear

• Mutation of genes MSX2, ALX4,FGFR1,2, TWIST

• Report : associated with smoking, thyroid disease

• The problems : depends on which sutures close

prematurely
• Sagital suture : scaphocephaly (50%)

• Coronal suture : brachycephaly (30%)

½ CS: Plagiocephaly

• Frontal (metopic) suture : Trigonocephaly

 Microcephaly
• Neonates w/ MC are born w/ normal sized or
slightly small calvaria

• The fontanelles close during early infancies

• Was the result of abnormal development of the

CNS in which the brain and neurocranium fait to
grow

• Associated with mentally deficient

achondroplasia
• Disease most associated with
human dwarfism
• Occurs in 1 / 15,000 – 17,000
people
• Caused by a missense mutation, In
patients with achondroplasia,
mutations occur in the FGFR3 gene,
the gene that produces the
Fibroblast Growth Factor Receptor
3 protein.
There are two causes of the FGFR3 gene mutation in patients
with achondroplasia, namely:
• Mutations that occur spontaneously. About 80% of
achondroplasia is caused by gene mutations that are not
inherited from their parents.
• Derived mutations. About 20% of cases of achondroplasia are
inherited from parents.
– If one parent has achondroplasia, then the percentage of children
suffering from achondroplasia is 50%.
– If both parents have the condition achondroplasia, then the risks
that might occur are as follows:
• 25% chance of being normal.
• 50% chance of having one defective gene, causing achondroplasia.
• 25% chance of inheriting two defective genes, resulting in fatal
achondroplasia.
 Diagnosis
• As a first step, search for the patient's and
family's medical history, as well as an overall
physical examination. ‘
• Achondroplasia sufferers can be seen from birth
with short and disproportionate limb
characteristics.
• To determine the diagnosis of achondroplasia
can also be done during pregnancy, especially
for parents who suffer from achondroplasia.
During pregnancy.
• Ultrasound. To check the condition of the fetus in the
uterus and detect signs of achondroplasia, such as
hydrocephalus.
• Detection of the FGFR3 gene mutation. Detection of
gene mutations while still in the womb can be done
by taking a sample of amniotic water (amniocentesis)
or placental tissue samples or placenta, called
chorionic villus sampling. However, this action risks
causing miscarriage.
After the baby is born.
• DNA testing. DNA testing is done to confirm
the diagnosis of achondroplasia.
 Phenotype & Symptoms
• Height of ~ 4 ft., short extremities, slight to moderate
obesity, and large head (with a prominent forehead)
• Short arms, legs and fingers.
• Having spinal deformities, can be in the form of lordosis
(curved forward) or kifosis (curved backward).
• Narrow spinal canal.
• O-shaped limbs.
• Short, wide soles.
• Tone or muscle strength is weak.
• frequent ear infections (due to short Eustachian tube), and
trouble breathing (due to airway restriction)
 Phenotype & Symptoms
• Limitations in movement, due to decreased muscle tone.
• Spinal stenosis, which is a narrowing of the spinal canal
that results in depressed nerves in the spinal cord.
• Hydrocephalus, which is a buildup of fluid in the cavities
(ventricles) in the brain.
• Sleep apnea, which is a condition characterized by the
cessation of breathing during sleep.
• 2 – 5% of infants die due to symptoms
• Does not effect intelligence
 achondroplasia Treatment

there is no drug or method of treatment that can treat

achondroplasia. Handling is only intended to treat complications
that arise, such as:
• Antibotic. To treat ear infections
• Anti-inflammatory drugs. To treat achondroplasia patients with
joint disorders.
• Operation. Surgery can be performed to overcome complications
that may occur, including:
– Orthopedic procedure. Procedures performed by orthopedic doctors
to improve the shape of the O leg.
– Lumbar laminectomy. Surgical procedures for treating spinal stenosis.
– Ventriculoperitoneal shunt. Surgical procedures are performed if an
achondroplasia sufferer has hydrocephalus.
– Caesarean sectionThis is done to reduce the risk of bleeding because
the fetal head is too big to be born normally.
Club Foot/ CTEV
 DEFINITION
• Clubfoot is one of the most common
congenital orthopedic anomalies and was
described by Hippocrates in the year 400 BC.
• However, it still continues to challenge the
skills of the pediatric orthopedic surgeon as it
has a notorious tendency to relapse,
irrespective of whether the foot is treated by
conservative or operative means.
 PATHOANATOMY
• The true clubfoot is characterized by equinus,
varus, adductus and cavus
 ETIOLOGY
• Mechanical theory (Hipocrates)
• Inherited as a polygenic multifactorial trait
 ANTENATAL DIAGNOSE
• With the advent of ultrasound, clubfoot can
now be diagnosed at 18-20 weeks of
gestation. However, this is only 80% accurate
 CLINICAL FEATURES
• Idiopathic clubfoot is characterized by a bean-
shaped foot, prominence of the head of the
talus, medial plantar cleft, deep posterior
cleft, absence of normal creases over the
insertion of tendo achilles, calcaneal
tuberosity situated at a higher level and
atrophy of calf muscles
 CLASSIFICATION
• Clubfoot has been classified in the past as
mild, moderate and severe
 TREATMENT
• Manual repositioning and serial
casting immediately after birth (ponsetti)
• If manual repositioning is unsuccessful:
surgical release of contractures and correction
of bone alignment
POLIDAKTILI
 What is polydactyly?

POLYDACTYLY IS A MEDICAL TERM USED TO DESCRIBE EXTRA FINGERS ON

THE HANDS OR TOES ON THE FEET. SINCE THE EXTRA FINGERS OR TOES
ARE PRESENT AT BIRTH, THEY ARE CALLED A CONGENITAL ANOMALY.
• If they are adjacent to the thumb or big toe, they are called pre-axial digits.
• If they are adjacent to the pinky finger or toe, they are called post-axial digits.
• Extra digits can also be centrally located in the hand or foot
PolyDactyly
 What causes polydactyly?

POLYDACTYLY OCCURS WHEN THE BODY FOLLOWS A DIFFERENT

SET OF DIRECTIONS THAN USUAL WHILE FORMING THE
HANDS OR FEET DURING DEVELOPMENT.

**Some syndromes that might be present with polydactyly

include Greig Cephalopolysyndactyly Syndrome (GCPS) or Bardet-
Biedl Syndrome (BBS)
 How is polydactyly inherited?
Sometimes extra digits appear to be a strong family trait that
does not usually skip generations. we would consider the gene
change to be dominant, so the chance of passing the polydactyly
trait on to a child is 50 percent with each pregnancy if one parent
has polydactyly.
a gene change might be recessive, in which case the chance of a
person with polydactyly passing that trait onto a child is much
smaller.
This is an autosomal chromosome causing disorder which means
it affects boys and girls the same.
When polydactyly does occur as a family trait, it may occur in
*Black means has Polydactyly, white
different combinations. One family member may have extra means does not.
digits only on their hands, while another family member may *Dominant allele example.
have extra digits only on their feet.
LIFE EXPECTANCY FOR PEOPLE
WITH POLYDACTYLY

The life expectancy for people with polydactyly is

the same as a normal person without the
disorder.
 What restrictions does it have?

• If the extra finger or toe is removed, then most children will

have full range of motion with their other fingers and toes.
• Sometimes, if the finger or toe is not removed, the extraneous
finger/toe has no range of motion, therefore the dexterity
would be affected in the hand and the balance affected in the
foot.
 Can Polydactyly be treated?
• For children with minor cases of polydactyly, the
extra finger or toe may be tied at its base to
restrict blood flow into it. Eventually the extra
digit will fall off.
• Other times, a pediatric orthopedic surgeon will
remove the extra finger or toe and reconstruct the
part of the hand or foot that was affected. The
surgeon will save the digit that best fits with the
others.
• This surgery usually occurs when the child is
between one and two years old.
• Polydactyly cannot be prevented.