OBSOLETE: Lumbosacral spina bifida cystica

Lumbosacral spina bifida cystica is an obsolete Orphanet classification (Orphanet code 268758) that previously referred to a specific subtype of neural tube defect (NTD) in which the spinal column fails to close properly during embryonic development in the lumbosacral region (lower back and sacrum), resulting in a cyst-like protrusion containing meninges and/or spinal cord tissue. This condition encompasses both meningocele (protrusion of meninges only) and myelomeningocele (protrusion of both meninges and spinal cord) localized to the lumbosacral spine. The term has been retired as a distinct entity in Orphanet and is now classified under broader categories of spina bifida cystica or open spinal dysraphism. Clinically, lumbosacral spina bifida cystica affects the nervous system, musculoskeletal system, and urogenital system. Key features include lower limb weakness or paralysis, sensory loss below the level of the defect, bladder and bowel dysfunction (neurogenic bladder and bowel), and orthopedic complications such as clubfoot and hip dysplasia. Hydrocephalus frequently co-occurs, often associated with Chiari II malformation. The condition is apparent at birth, with the visible cystic lesion on the lower back being the hallmark finding. Management is multidisciplinary and typically involves surgical closure of the defect shortly after birth to prevent infection and further neurological damage. Hydrocephalus may require ventriculoperitoneal shunt placement. Ongoing care includes urological management, physical therapy, orthopedic interventions, and neurodevelopmental support. Prenatal folic acid supplementation is a well-established preventive measure that significantly reduces the risk of neural tube defects. Prenatal surgical repair (fetal surgery) has also shown benefits in reducing the severity of associated complications, as demonstrated by the MOMS trial.

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