MENINGOCELE

 

MENINGOCELE

 

DEFINITION:

A neural tube defect affecting the spine resulting in the herniation of the meninges through a vertebral defect in the lumbar region.

EPIDEMIOLOGY:

  • incidence: 1-2/1000 live births (of spina bifida cystica)
  • age of onset:
    • less than 26 days gestational age
  • risk factors:
    • multifactorial inheritance pattern:
  • 1. Genetic
    • recurrence rate is 4% with an increase to 10% if a couple has had 2 affected children
    • may be transmitted as an AR trait
  • 2. Nutritional and Environmental Factors
    • hyperthermia
    • vitamin A
  • 3. Drugs
    • valproic acid - induces neural tube defects in 1-2% of pregnancies
    • associated anomalies:
  • 1. Skull
    • aqueduct stenosis with hydrocephalus
      • may arise when the meningocele is in the cranial or high cervical region
  • 2. Spinal
    • diastematomyelia, lipomas, syringomyelia, tethered cord
  • TYPES:

    1. Posterior Meningocele

    • most common type of meningocele
    • hernia contains no neural tissue
    • projects externally through a defect in the posterior aspect of the vertebral arch
    • usually covered by a thick -> thin layer of skin or membrane
    • may or may not leak CSF
    • usually not associated with any neurologic deficiencies

    2. Anterior Meningocele

    • uncommon type of meningocele
    • hernia contains no neural tissue
    • projects internally through a defect in the anterior aspect of the vertebrae into the pelvis
    • complications include:
      • constipation and/or bladder dysfunction
      • females may have associated anomalies of the GU tract
        • retrovaginal fistula
        • vaginal septa

    CLINICAL FEATURES:

    1. Meningocele

    • a fluid-filled midline mass that may transilluminate
    • usually in the lumbar region but also in the cervical region
    • covered with skin or membrane:
      • skin-covered
        • found along the neuroaxis
        • usually free of the associated anomalies
      • membrane-covered
        • usually found rostrally
        • more likely to be associated with anomalies

    2. Complications

    • these depend on the level and severity of the lesion
    • bladder and bowel sphincter dysfunction
    • orthopedic problems:
      • equinovarus deformity, club foot, gait disturbances

    INVESTIGATIONS:

    1. Imaging Studies

    1. Vertebral X-Ray

    • defect in the closure of the vertebral arches and laminae

    2. CT/MRI

    • to rule out associated anomalies and to determine the extent of neural tissue involvement

    2. Prenatal Diagnosis

    • elevated maternal serum alpha-feto-protein (AFP)
    • level II ultrasound
    • amniocentesis - elevated AFP and acetylcholinesterase

    MANAGEMENT:

    1. Surgery

    • correction to prevent infection
    • immediate if membrane covered +/- CSF leak

    2. Supportive

    • bowel and bladder problems
    • orthopedic problems
    • genetic counselling

    3. Prevention

    • women in the child-bearing years should be encouraged to eat foods rich in folic acid (orange juice, broccoli, whole grains, beans, peanut butter, spinach, peas)
    • women who plan to become pregnant should take a supplement of 0.4 mg of folic acid daily
    • decrease recurrence rate in patients at risk with 4 mg of folic acid daily from the time of conception through the first trimester

     

    Pediatric Database - MENINGOCELE

    Pediatric Organization - Pedbase [at] Gmail.com