Overview
Spinal dysraphism with a posterior meningocele is a congenital neural tube defect in which there is incomplete closure of the vertebral column (spinal dysraphism) accompanied by a herniation of the meninges (the protective membranes surrounding the spinal cord) through a bony defect in the posterior aspect of the spine, forming a fluid-filled sac called a meningocele. Unlike myelomeningocele, the spinal cord and nerve roots are typically not contained within the herniated sac, which generally confers a more favorable neurological prognosis. However, the condition can still be associated with varying degrees of neurological impairment depending on the location and extent of the defect. The condition primarily affects the musculoskeletal and nervous systems. Clinical features may include a visible or palpable mass along the spine (most commonly in the lumbosacral region), skin abnormalities overlying the defect, and potential neurological symptoms such as lower limb weakness, sensory changes, or bladder and bowel dysfunction. Some patients may have associated tethered spinal cord or other spinal anomalies. The severity of symptoms varies widely, with some individuals remaining largely asymptomatic while others experience progressive neurological deterioration. Treatment is primarily surgical, involving repair of the meningocele to prevent infection (such as meningitis), cerebrospinal fluid leakage, and further neurological damage. Surgical closure is typically performed in the neonatal period or early infancy. Long-term management may include monitoring for hydrocephalus, tethered cord syndrome, and orthopedic or urological complications. A multidisciplinary approach involving neurosurgery, urology, orthopedics, and rehabilitation is often necessary. Folic acid supplementation before and during early pregnancy has been shown to reduce the risk of neural tube defects in general.
Also known as:
Multifactorial
Caused by a mix of several genes and environmental factors
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Spinal dysraphism with a posterior meningocele.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
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Common questions about Spinal dysraphism with a posterior meningocele
What is Spinal dysraphism with a posterior meningocele?
Spinal dysraphism with a posterior meningocele is a congenital neural tube defect in which there is incomplete closure of the vertebral column (spinal dysraphism) accompanied by a herniation of the meninges (the protective membranes surrounding the spinal cord) through a bony defect in the posterior aspect of the spine, forming a fluid-filled sac called a meningocele. Unlike myelomeningocele, the spinal cord and nerve roots are typically not contained within the herniated sac, which generally confers a more favorable neurological prognosis. However, the condition can still be associated with v
How is Spinal dysraphism with a posterior meningocele inherited?
Spinal dysraphism with a posterior meningocele follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Spinal dysraphism with a posterior meningocele typically begin?
Typical onset of Spinal dysraphism with a posterior meningocele is neonatal. Age of onset can vary across affected individuals.