OBSOLETE: Lumbosacral spina bifida aperta

Lumbosacral spina bifida aperta is an obsolete term previously used in the Orphanet classification system (Orphanet code 268388) to describe a specific subtype of open spinal dysraphism (spina bifida aperta) occurring in the lumbosacral region of the spine. In this condition, the neural tube fails to close properly during early embryonic development, resulting in an open defect in the lower back where the spinal cord and/or meninges are exposed or protrude through a gap in the vertebral arches. This encompasses conditions such as lumbosacral myelomeningocele, which is the most common and clinically significant form of open spina bifida. As an obsolete entry, this term has been retired and its clinical content has been reorganized under broader or more specific classifications within the Orphanet rare disease nomenclature, such as spina bifida aperta (non-syndromic) or myelomeningocele. Clinically, lumbosacral open spina bifida typically presents at birth with a visible defect on the lower back, and affected individuals may experience lower limb weakness or paralysis, bladder and bowel dysfunction, hydrocephalus, and Chiari II malformation. The severity depends on the exact level and extent of the spinal cord involvement. Management is multidisciplinary and typically involves surgical closure of the defect shortly after birth, treatment of hydrocephalus (often with ventriculoperitoneal shunting), and ongoing rehabilitation including physical therapy, urological management, and orthopedic care. Prenatal folic acid supplementation has been shown to significantly reduce the risk of neural tube defects. In select cases, prenatal surgical repair (fetal surgery) may improve neurological outcomes. Because this Orphanet entry is obsolete, patients and clinicians should refer to the current active classifications for the most up-to-date information.

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