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SPINAL DYSRAPHISM/SPINA BIFIDA 3.

Insufficient maternal levels of folic acid


-Spectrum of abnormalities of development of spinal However greater than 90% of spina bifida infants there no
vertebrae and the spinal cord, ranging from the absence of above risk factors thus sporadic.
a single vertebral spinous process to craniospinal
rachischisis (failure of neural tube closure incompatible with Clinical presentation
life) The symptoms associated with dysraphism vary with the
-All of these conditions have in common a failure of the bony degree of malformation of the underlying neural tissue.
spinal column to close fully, defining bifid spine. The frequent
associated defects include: Spinal bifida occulta
-Frequently seen as an incidental finding on routine spine
A.Spina bifida occulta radiographs, most commonly at the L5 and S1 levels.
-Usually an incidental radiographic diagnosis representing -In itself, it is of no neurological significance.
incomplete closure of the posterior laminar arches without -When it is associated with overlying skin abnormalities,
involvement of the nervous tissue. especially hypertrichosis, cutaneous haemangiomas, lipomas,
-Affects about 30 per cent of the population. or a sinus tract, an occult intraspinal lesion should be
suspected.
B.Occult spinal dysraphism
-The bony anomaly is associated with a number of Occult spinal dysraphism
abnormalities within the spinal canal. These include -These abnormalities may be noted at birth or during
a) Thick filum terminale childhood, with the overlying skin abnormalities above Patient
b) Intradural epidermoid and dermoid cysts may be asymptomatic for many years. Some of these children
c) Intradural lipoma (lipomyelomeningocele) (and, occasionally, adults) develop a progressive neurological
d) Teratoma deficit involving the lumbosacral roots-the tethered cord
e) Dias-temato-myelia (local midline splitting of the syndrome.
spinal cord with interruption by a midline bony or This appears as bowel or bladder difficulty, foot or leg
fibrous peg) weakness muscle atrophy, sensory loss, pes cavus and
f) Combination of abnormalities. scoliosis.
-Intradural pathology causing a tethered spinal cord is often
associated with some type of overlying skin abnormality, such Open neural tube defects
as hyperpigmentation, dermal sinus tract, or a hairy patch. -Present at birth, with an estimated incidence of 1 in 1000 live
-There are generally no other associated central nervous births, although this shows regional variation.
system anomalies (such as hydrocephalus or the Chiari -An infant with a meningocele is usually neurologically normal
malformation) in occult spinal dysraphism. The spinal cord is -In myelomeningocele neurological deficits are present at birth,
usually normal except in relationship to the distal these deficits become more severe as more of the placode
tethering(diastematomyelia) becomes involved.
-These lesions are most common in the lumbosacral area,
C.Open neural tube defects causing abnormalities of bowel and bladder function, as well as
Spina bifida cystica- protrusion of a sac through the defect in variable degrees of leg weakness and sensory loss.
the posterior lamina of the vertebral column.This sac can -Lesions higher in the spinal cord will be accompanied by
contain meninges or meninges plus neural tissue. Thus relatively more severe deficits.
i) Meningoceles, where there is a cystic outpouching of -In addition to the local neurological deficits, affected infants
rudimentary meninges with an underlying intact spinal cord are at risk of meningitis precipitated by contamination of
ii) Myelomeningocele, where the malformed neural tube is cerebrospinal fluid from incompetent dura.
present at the base of or within the cyst. NB Spina bifida is most common in the lower thoracic, lumbar,
iii) Myelorachis-chisis, where the malformed neural tube is or sacral region and usually extends for 3 to 6 vertebral
splayed over a number of spinal segments, without meningeal segments.
or skin coverage.
Associated abnormalities of spinal bifida
Incidence and epidemiology A)Brain anomalies associated with myelomeningocele include
-Incidental spinal bifida occulta is found in up to 30 per cent of  Hydrocephalus-Chiari and other intracranial
the general population and has no clinical significance. malformations - 80 per cent of infants with
-The incidence of occult spinal dysraphism is unknown; myelomeningoceles have hydrocephalus
however, its clinical presentation as the tethered spinal cord  Agenesis of the corpus callosum
syndrome is uncommon  Lobar agenesis
-The incidence of myelomeningocele is approximately 1 per  Polymicrogyria
1000 live births.  Rim-cortex (holoprosencephaly)
 Intracranial cysts and lipomas
Sex
 Encephaloceles.
-Higher incidence in females.(menigomyeloceles)
B)Musculoskeletal
Risk factors  Hip dislocations
-Largely unknown  Club feet
-However it tends to occur in families  Kyphoscoliosis
-General population risk of myelomeningocele is 0.1% but  Rib cage anomalies
previous child with the defect risk is 5%. C)Genitourinary
-Environmental factors- intake of drugs during pregnancy as  Hydronephrosis
well as radiation exposure early in pregnancy may play a role.  Hydroureters
Thus  Horse shoe kidneys
1.1st trimester valproic acid and derivatives (valproate sodium)  Un-descended testis
use D)Cardiopulmonary
2. previous children with spina bifida or close relative born with  VSD,ASD
the defect

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c)Gastrointestinal systems Patients presenting with progressive deterioration of
 Malrotations neurological function then immediate complete evaluation of
 Emphaloceles the spine and surgery to decompress or release the tethered
 Merckels diverticulum cord is indicated.
-The likelihood of associated somatic anomalies increases with Midline cutaneous stigmata require complete evaluation and
the severity of the neural tube defect; however, on average a the presence of occult dysraphism require planning for surgery
child can be expected to have more than one abnormality. even if no neurological signs are present

Investigations Myelomengingocele
Prenatal Requires multidisciplinary approach with specialists from
-Family history of spina bifida is an indication for further several disciplines.
evaluation of an unborn child. This by: Initially important are
 Antenatal ultrasonography  Neurosurgical
 Maternal serum and amniotic fluid alpha-fetoprotein  Urologic
levels measurements.  Orthopedic
-An open spinal column or a meningocele sac are readily  Pediatric
apparent on an obstetrical ultrasound examination. –  social service evaluations.
-Elevated maternal serum alpha-fetoprotein levels can be -Thorough evaluation of the infant and counseling of the family
associated with myelomeningocele and should prompt a close should generally precede intervention.
ultrasonographic examination. -It is important to assess the type, level, and extent of the
Counselling the parents of a spina bifida child is of the utmost lesion; the infant's general health status and associated
importance, particularly when the diagnosis is made deficits; the family's strengths, desires, and resources; and the
antepartum. community resources, including ongoing care.
Open discussion of possible outcome with option for abortion Once evaluation is complete, a decision can be made on how
should be carried out. aggressive treatment should be.
If the defect is leaking CSF, antibiotics and urgent
Post natal neurosurgical evaluation and repair will reduce the risk of
Evaluation of spina bifida meningeal or ventricular infection.
1. Spinal x-ray However with already manifest neurological deficit with good
2. spinal MRI skin cover then early surgery does not improve the function but
Other abnormalities its only for cosmetic function. Parents should be counseled
1.Plain x-ray and CT scan of the head to evaluate for about this.
hydrocephalus ,Chiari malformations and other associated With compromised urinary and fecal continence then at point of
cerebral malformations eg encephaloceles repair of bony defect then urine ad feccal diversion procedures
Ultrasonography has role in evaluation of hydrocephalus in could be attempted. Fecal incontinence may necessitate the
cases with open fontanels. fashioning of permanent colostomy.
Urinary system
1.Abdominal ultrasound-also evaluate GIT anomalies Other congenital anomaly-interval management as
2.IVU appropriate.
3.BUN and creatinine
-urinalysis, urine culture may be done for evaluation of UTI Hydrocephalus may require a shunt procedure
Cardiac
Echocardiography Hydronephrosis-nephrostomy may be done to preserve the
Musculoskeletal existing parenchymal tissue. Kidney function must be followed
Image the area affected Hip x-ray, foot x-ray closely, and UTI should be treated promptly.
Nephrostomy is the Establishment of an opening between the
Complications collecting system of the kidney through its parenchyma to the
1. If not well covered with skin, the sac can easily rupture, exterior of the body; may be performed by surgical incision or
increasing the risk of meningitis. be placed percutaneously.
2. When the spinal cord or lumbosacral nerve roots are
involved, as is usual, varying degrees of paralysis occur below Obstructive uropathy at either the bladder outlet or ureteral
the involved level. level must be treated vigorously, especially when infection
Since this paralysis occurs in the fetus, congenital orthopedic occurs.
problems can present at birth (eg, clubfoot, arthrogryposis,
dislocated hip). The paralysis usually affects bladder and rectal Orthopedic care should begin early. If a clubfoot is
functions, and the resulting GU disorder can eventually lead to present,serial casting should start birth .The hip joints should
severely damaged kidneys. be checked closely for dislocation. Other continuing orthopedic
3. Kyphosis, sometimes associated with spina bifida, can concerns are scoliosis, pathologic fractures, development of
hinder surgical closure and prevent the patient from lying pressure sores, and muscle weakness and spasm, which may
supine. cause further deformities.
4. Hydrocephalus occurs commonly and may be related to
aqueductal stenosis or an Arnold-Chiari malformation.

MANAGEMENT
Treatment
Spina bifida oculta
Has no neurological implications and re-assuarnce and
councelling of the patients.

Occult spinal dysraphism

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