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 Most serious central nervous system birth defect compatible
with life

 Described from times of Hippocrates & Aristotle, who even

recommended infanticide for these children

 Progress in treatment rapid since introduction of valved


 Many aspects still remain undiscovered

 Localised failure of caudal neural tube closure causes

 Two theories suggested

- Nonclosure theory
- Overdistension theory

 Overdistension theory has now been discarded

 Associated in most cases with Arnold Chiari type II
Possible Aetiology
 Cytotoxic agents – Vinblastine & cyto chalasins
 Calcium channel blockers
 Phospholipase – C or concanavalin A
 Retinoic acid, Hydroxyurea, Mitomycin C

 Deficiency of folate

 Misexpression of Pax 3 gene product causes neural

tube defects
 Incidence 0.7 – 0.8 per 1000 live births

 Recurrence risk for parents with

1 previously affected child rises to 1-2%
2 previously affected children raises risk to as
high as 10 %

 For a parent with myelomeningocele the risk of

child with the same is 3%
Prenatal diagnosis

 Maternal AFP at 16 to 18 wks detects open neural

tube defects with sensitivity of 75% ( not specific)

 Fetal USG has a sensitivity of nearly 100%

( Banana sign & Lemon sign)

 Amniotic fluid AFP & AChE done together final

method of identification
Initial neurosurgical care

2. Stabilizing the infant, identifying associated
abnormalities, closing myelomeningocele

4. Treating associated hydrocephalus when

Initial clinical assessment
 Spinal level & size of lesion, redundancy and quality of
surrounding skin, presence of kyphosis can affect difficulty of

 Sensorimotor level determined by observing movements of

lower limbs & response to sensation

 Initial evaluation for hydrocephalous i.e. head circumference,

palpation of anterior fontanelle, sutural diastasis

 Assessment of lower cranial nerves and brainstem function

Initial clinical assessment

Poor prognostic signs

 Poor feeding/nasal regurgitation,
 Weak cry, stridor, central apneoa,
 Hypotonia, poor head control, weak upper

 General paediatric examination to identify

associated congenital anomalies
Stabilisation & pre operative
 Placode protected since birth by covering with
sterile saline soaked gauzes (not with povidone
iodine) since it contains partially functioning neural

 Systemic antibiotics for 1st 3 post natal days to

prevent CSF / UT infections
Operative treatment
Operative treatment
 Placode closed in 1st 48 – 72 hrs to avoid neurologic
deterioration & meningitis

 Care taken to avoid cutting dorsal nerve roots along ventral

side of placode near its skin border

 Intact filum terminale / associated anomalies causing

persistent tethering sectioned or treated simutaneously

 Dural sac made capacious to prevent tethering

Operative treatment
 Significant kyphosis interferes with closure,
compromises spinal stability hence kyphectomy
performed simultaneously

 Skin subcutaneous tissues undermined and closed


 For large skin defects transposition flaps or

musculocutaneous flaps used
Treatment of Hydrocephalous

 Hydrocephalous clinically evident at birth (15%) or

develops days to weeks after closure of placode
 If untreated CSF may leak from wound chances
of meningitis
 USG or CT measurements of ventricular size
 Pulsed Doppler measurements of IC bld flow &
resistive index in borderline cases
 Progressive increase in RI more suggestive
Treatment of Hydrocephalous

 Most common treatment is VP shunt

 Isolated contralateral entrapped lateral ventricle

after shunting seen in these pts due to stenosis /
obstruction of foramen of Monro

 Shunting contralateral ventricle or fenestrating

septum pellucidum treats these cases
Hydrocephalous in Older child
 By 6yrs 52% children with meningomyelocele have had shunt revision &
20 % multiple revisions

 Signs & symptoms of shunt malfunction in meningomyelocele

4. Headache, loss of appetite, nausea , vomiting
5. Behavioral changes
6. New onset / change in freq of seizures
7. Decline in motor performence
8. Worsening urinary function
9. Stridor / Vocal cord palsy
10. Pain in back or legs
11. Worsening scoliosis
Hydrocephalous in Older child
 Fundoscopy a must in such cases

 Cranial USG & CT for change in ventricular size

 Shunt tap provides valuable info on shunt blockage

 Traditionally malfunctions treated by shunt revision but

recently third ventriculostomy may be done in >6mths of

 Congenital malformation where CNS structures in

communication with CSF pathways herniate
through defect in cranium

 Incidence varies geographically from 1 in 3000 to

1 in 10000 live births

According to According to location

contents of
swelling  Posterior
 Meningocele
- occipital
 Encephalocele
 Anterior
 Meningoencephaloce
- frontal
- sincipital
 Hydroencephalomeni
ngocele - basal
 Encephalocystocele
 Primary abnormality is mesodermal defect resulting in defect in calvarium
and dura with herniation of CSF, brain tissue,meninges through defect

 Failure of surface ectoderm to separate from neuroectoderm early in

embryonic development

 In the calvarium, induction of bone formation may be defective, or

pressure erosion from an intracranial mass may occur

 Defects at skull base may be related to faulty closure of neural tube or

failure of basilar ossification

 Frontoethmoidal encephaloceles most common in Asia.

Clinical presentation
 Swelling present at birth
 Head size small ( larger the herniation smaller the head
size )

 Frontoethmoidal – swelling over root or bridge of nose

 Nasopharyngeal, sphenoethmoidal,
transsphenoidal – no obvious external swelling, CSF
rhinorrhea or nasal obstruction may be present
 Orbital – proptosis
 Occipital – posterior swelling
Associated Pathologies

 Cleft lip, palate

 Micrognathia
 Spinovertebral anomalies
 Renal agenesis
 Retinal detachment
 Cardiac anomalies
 Pulmonary & renal hypoplasia
Prenatal Diagnosis
 Diagnosis thought impossible before skull ossification at 10 weeks'
gestation (Earliest reported at 13 weeks' gestation)

 US appearances of encephalocele variable in first trimester

 Once diagnosed, search for associated anomalies, both intracranial

and extracranial (60-80%) performed

 Risk of chromosomal abnormalities 13-44%; karyotyping offered to


 USG mainstay of fetal imaging, fetal MRI provides superior detail of

central nervous system (CNS) anomalies
Prenatal USG
3D Reconstruction of USG
Differential diagnosis

- Branchial cleft cyst

- Hemangioma
- Cystic hygroma
- Myelomeningocele
- Scalp edema
- Teratoma
- Epidermal scalp cyst
- Cloverleaf skull
Operative treatment
 Consists of excision of hernial sac & repair of dural defect after
replacing brain into cranial cavity

 Not an emergency except when CSF leak present

 Extensive surgery better tolerated at 6-8 mths of age

 VP shunt can be inserted before corrective surgery to prevent


 Surgery best avoided when microcephaly with extensive

neural tissue in sac present
 Size, content and presence of hydrocephalus
influence prognosis in posterior encephalocele

 In absence of hydrocephalus & meningitis

prognosis of anterior encephalocele is usually

 Absence of brain tissue within herniated sac most

favorable prognostic feature for survival
Preop & post op anterior
Preop & post op posterior