Myelodysplasia
- Failure
of closure of caudal neural tube permitting herniation of CNS/meninges
through posterior spine
- Occurs at
approximately 30 days gestation
- Incidence
is approximately 1/1000 live births
- Risk in
mother with one child with defect is 25/1000 live births
- Maternal
folate deficiency is related
- Terminology
- Spina
bifida – defect in the posterior elements of the spine
- Meningocele
– bony defect with herniation of meninges
- Myelomenigocele
– bony defect with herniation of meninges and spinal cord elements
- Lipomyelomeningocele
– bony defect with herniation of meninges and spinal cord elements and
associated fatty tissue
- Diastematomyelia
– congenital splitting of part of the spinal cord with accompanying
bony/cartilaginous septum
- Location:
- 45%
cross thoracolumbar junction
- 20% are
lumbar
- 20% are
lumbosacral
- 10% are
sacral
- Assessment
- Assess
for neurologic status and level of function:
- Size of
opening and CSF leakage
- Head
circumference and fontanelle (flat/tense)
- Diagnosis:
- Prenatal
diagnosis by intrauterine ultrasound and elevated AFP in amniotic fluid
- Uncontrasted
head CT to assess for hydrocephalus and tissue within defect
- US of
kidneys for associated hydronephrosis/renal anomalies
- Plain
spine films/skull films to assess bony defect
- MRI
spine to define anatomy
- Other associated
conditions:
- Hydrocephalus,
tethered cord, Chiari malformation (type II), Chiari crisis, progressive
scoliosis, inclusion dermoid tumors, chronic urinary problems
- Treatment:
- Surgical
correction
- If
leaking CSF, will require abx (nafcillin/gentamycin) and NS gauze to
protect defect pending repair
- Repair
is urgent, but not a true emergency
- Treatment
requires a multidisciplinary approach – Neurosurgery, Pediatrics,
Orthopedics and Urology
- In
patients with early closure and adequate control of hydrocephalus,
complete normal intellectual development is typical