Spinal dysraphism refers to a group of congenital neural tube defects caused by the incomplete closure of the spine and spinal cord during early embryonic development (third week). These conditions are classified into open (skin not intact) or closed (skin intact) types, with myelomeningocele being the most common open type. It requires specialized multidisciplinary care to address neurological, bowel, and bladder issues.
Columbia University
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Key Aspects of Spinal Dysraphism
Types:
Open Spinal Dysraphism (Spina Bifida Aperta): Neural elements are exposed to the environment (e.g., myelomeningocele, myelocele).
Closed Spinal Dysraphism (Spina Bifida Occulta): Neural elements are covered by skin. Examples include spinal cord lipoma, dermal sinus tract, and tight filum terminale.
Embryology: Occurs when the neural tube fails to fuse completely, typically in the lower section, during the third week of gestation.
Symptoms and Presentation:
Infants: Often visible at birth as a mass, fatty lump, patch of hair, or deep dimple on the back.
Children/Adults: Progressive gait abnormalities, neurogenic bladder/bowel dysfunction, lower extremity weakness, and back pain.
Tethered Cord: A common, severe complication where the spinal cord is abnormally attached, causing tension, pain, and neurological decline as the child grows.
Diagnosis: Antenatal maternal alpha-fetoprotein (AFP) screening and ultrasound. Postnatal diagnosis is confirmed using MRI or ultrasound to identify the structural defect.
Management:
Surgical Intervention: Usually necessary, particularly for open defects to prevent infection, and sometimes to release a tethered cord to prevent further damage.
Multidisciplinary Approach: Involves neurosurgeons, urologists, pediatricians, and rehabilitation experts.
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