OBSOLETE: Thoracolumbosacral spina bifida aperta

Thoracolumbosacral spina bifida aperta is an obsolete Orphanet classification (Orphanet code 268384) that previously described a specific anatomical subtype of open spina bifida (spina bifida aperta) affecting the thoracic, lumbar, and sacral regions of the spine. In this condition, the neural tube fails to close properly during early embryonic development, resulting in an open defect spanning a large portion of the spine from the thoracic through the sacral segments. Because the defect involves such an extensive region, affected individuals typically experience significant neurological impairment, including lower limb paralysis or weakness, loss of sensation below the level of the lesion, and bowel and bladder dysfunction. Hydrocephalus and Chiari II malformation are commonly associated findings. This term has been rendered obsolete in current Orphanet nomenclature and has been subsumed under broader classifications of open spina bifida (myelomeningocele). The condition is now generally classified under non-syndromic spina bifida aperta or myelomeningocele. The defect is apparent at birth and is typically diagnosed prenatally via ultrasound or maternal serum alpha-fetoprotein screening. Management includes surgical closure of the defect (either prenatally or shortly after birth), treatment of hydrocephalus with ventriculoperitoneal shunting if needed, and long-term multidisciplinary care involving neurosurgery, urology, orthopedics, and rehabilitation. Folic acid supplementation before and during early pregnancy has been shown to significantly reduce the risk of neural tube defects. The etiology is multifactorial, involving both genetic susceptibility and environmental factors such as folate deficiency.

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