OBSOLETE: Thoracolumbosacral spina bifida cystica

Thoracolumbosacral spina bifida cystica is a neural tube defect in which the spinal column fails to close properly during embryonic development, affecting the thoracic, lumbar, and sacral regions of the spine. This entry is now classified as OBSOLETE in the Orphanet database, meaning it has been retired and its clinical content has been reorganized under broader or more specific spina bifida classifications. Spina bifida cystica refers to forms of spina bifida where a cyst-like sac protrudes through the defect in the spine, which may contain meninges alone (meningocele) or meninges along with spinal cord tissue (myelomeningocele). The thoracolumbosacral designation indicates that the defect spans a large segment of the spine, from the thoracic through the sacral region. Patients with this extensive form of spina bifida cystica typically present at birth with a visible sac on the back, and the condition can cause significant neurological impairment including lower limb paralysis or weakness, loss of sensation below the level of the defect, and bowel and bladder dysfunction. Hydrocephalus is a common associated finding, often requiring cerebrospinal fluid shunting. Orthopedic complications such as clubfoot, hip dislocation, and scoliosis may also occur. The extent of neurological deficit generally correlates with the level and severity of the spinal defect, and involvement of the thoracic region typically results in more severe disability compared to lower-level defects. Management is multidisciplinary and begins with surgical closure of the defect, ideally within the first days of life, or in some cases prenatally through fetal surgery. Ongoing care involves neurosurgery, urology, orthopedics, physical therapy, and rehabilitation services. Folic acid supplementation before and during early pregnancy has been shown to significantly reduce the risk of neural tube defects. While there is no cure, advances in surgical techniques and supportive care have improved outcomes and quality of life for affected individuals.

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