Neural Tube Defects

Khairunnisa

Neural Tube Defects

Congenital deformities involving the
coverings of the nervous system are called
neural tube defects (NTDs).

SPINA BIFIDA
(Latin: "split spine")

Types
spina bifida aperta
osseous fusion of one or more vertebral
arches is lacking, without involvement of the
underlying meninges or neural tissue
spina bifida cystica
saclike casing is filled with cerebrospinal fluid
(CSF), spinal cord, and nerve roots that have
herniated through a defect in the vertebral arches
and dura

Spina bifida cystica

myelomeningoceles
meningoceles
Cervical and thoracic
regions are the least
common sites, and
lumbar and
lumbosacral regions
are the most common
sites for these lesions

 These lesions are important to differentiate from

myelomeningocele because their treatment and
prognosis are so different from
myelomeningocele. Neonates with a
meningocele usually have normal findings upon
physical examination and a covered (closed)
dural sac.
Neonates with meningocele do not have
associated neurologic malformations

Spina
In a third, rare type of spina bifida cystica
called myelocystocele, the spinal cord has
a large terminal cystic dilatation resulting
from hydromyelia.

Spina bifida occulta

In this group of neural tube defects, the
meninges do not herniate through the bony
defect. This lesion is covered by skin (ie,
closed),
hairy patch,
dermal sinus tract,
dimple,
hemangioma,
lipoma

 Presence of these cutaneous stigmata

above the gluteal fold signifies the
presence of an occult spinal lesion.
Dimples below the gluteal fold signify a
benign, nonneurologic finding such as a
pilonidal sinus

Signs and symptoms of occult spinal disorders in children include the following:
Radiologic signs

Cutaneous stigmata

Extremity asymmetry
Foot deformities

Neurological problems

Capillary hemangioma
Caudal appendage
Dermal sinus
Hypertrichosis

Orthopedic findings

Lamina defects
Hemivertebrae
Scoliosis
Widening of interpedicular distance
Butterfly vertebrae

Weakness of leg or legs

Leg atrophy or asymmetry
Loss of sensation, painless sores
Hyperreflexia
Unusual back pain
Abnormal gait
Radiculopathy

Urologic problems

Neurogenic bladder
Incontinence

Cranium bifida
midline skull defects
The most benign type of cranium bifidum
occultum is the persistent parietal
foramina or persistent wide fontanelle.
observation, as these skull defects often
close over time.

Encephalocele
anterior neuropore fails to close during days 2628 of gestation.

Anencephaly
Anencephaly is the most severe form of neural
tube defect
Anencephaly the MC major CNS Malformation

defect in notochord development,

failure of the cephalic folds to fuse in the
midline
is failure of the mesoderm to develop;
exposing the brain to further insult.
brain to be exposed to amniotic fluid,
thus destroying the developing forebrain
neural cells

Embryology

Etiology
low economic status,
antihistamine and
sulfonamide use,
nutritional
deficiencies, vitamin
deficiencies, and
anticonvulsant use.
carbamazepine,
valproic acid,

 The reported effects of maternal

periconceptional smoking and alcohol
consumption on the risk of neural tube
defects is of interest. In 2008, results of a
population-based, case-control study in
California conducted from 1998-2003 were
published.Maternal alcohol use increased
the risk of neural tube defects, whereas
smoking was associated with a lower risk
of neural tube defects

Chiari II malformation
Symptoms of a Chiari II malformation can
occur anytime after birth and very few
patients require decompression after their
first year of life for a symptomatic Chiari II
malformation. The symptomatic Chiari II
presentation can be as subtle as new
hoarseness and pneumonia or as obvious
as a progressive quadriparesis. A brain and
cervical cord MRI in patients with
myelomeningocele invariably demonstrates
a Chiari II malformation with a herniated
vermis and syringomyelia. The surgeon
must first and foremost check to see if the
ventricular peritoneal (VP) shunt apparatus
is functioning. Most of the time, a partial or
complete obstruction of a VP shunt (based
on a shunt tap or surgical exploration) is the
etiology of the new brainstem findings. A
shunt malfunction causes the hindbrain to
herniate and compress the cord, thus
causing many of the presenting symptoms.
Timely repair of the shunt leads to a good
outcome with reversal of most deficits.

Type I is described as downward herniation of the cerebellar tonsils through

the foramen magnum. Type II malformation is herniation of the cerebellar
vermis and brainstem below the foramen magnum. Type II malformation
also has kinking of the cervicomedullary junction, an upward trajectory of
the cervical nerve roots, and associated syringomyelia. The medulla often
protrudes below the foramen magnum and into the spinal canal,
compressing the cervical cord. The medulla then buckles dorsally and forms
a "medullary kink." Also, the fourth ventricle often is below the foramen
magnum, and the midbrain tectum forms a sharp corner on midsagittal MRI
and looks like a beak. Type II malformations are the subject of this section.
Type III malformation is essentially a posterior fossa encephalocele or a
cranium bifidum with herniation of the cerebellum through the posterior
fossa bone and is a more severe neural tube defect.
The only deviation from the consistent terminology described above is the
eponym Chiari type IV malformation. The Chiari type IV malformation
consists of cerebellar hypoplasia, not herniation, and is no longer
considered a Chiari malformation.

 The neonatologist, pediatric geneticist, pediatric

neurosurgeon, and pediatric orthopedist should
immediately evaluate the child. Possible cardiac
abnormalities are evaluated with ultrasonography. Initial
ultrasonography of the head may also be performed to
evaluate for hydrocephalus. Urologic examination using
ultrasonography followed by a complete pediatric
urologic evaluation may be performed initially or at a
later date. Orthopedic evaluation is performed shortly
before discharge because as many as 10% of neonates
with a neural tube defect may have hip dislocations