Open spinal dysraphism

Open spinal dysraphism (OSD), also known as spina bifida aperta, is a group of congenital neural tube defects in which the spinal cord and/or its surrounding membranes are exposed through a defect in the vertebral arches and overlying skin. The most common forms include myelomeningocele (where the spinal cord and meninges protrude through the vertebral defect) and myelocele (where the neural placode is exposed at the skin surface). These defects occur during the first month of embryonic development when the neural tube fails to close properly. The condition primarily affects the nervous system, musculoskeletal system, and urogenital system. Key clinical features include motor and sensory deficits below the level of the lesion, lower limb weakness or paralysis, bowel and bladder dysfunction (neurogenic bladder and bowel), and orthopedic deformities such as clubfoot and hip dysplasia. Hydrocephalus is a frequent associated finding, occurring in approximately 80-90% of patients with myelomeningocele, often in association with Chiari II malformation. The severity of symptoms depends largely on the level and extent of the spinal defect, with higher (more cranial) lesions generally causing more extensive neurological impairment. Patients may experience loss of sensation, chronic pain, skin breakdown, and recurrent urinary tract infections. Tethered spinal cord can develop over time, leading to progressive neurological deterioration. Cognitive function is variable but can be affected, particularly when hydrocephalus is present. Treatment is multidisciplinary and typically begins with surgical closure of the defect within the first 24-48 hours of life to prevent infection and further neurological damage. Prenatal surgical repair (fetal surgery) has emerged as an option that may improve outcomes, as demonstrated by the MOMS (Management of Myelomeningocele Study) trial. Hydrocephalus is managed with ventriculoperitoneal shunting or endoscopic third ventriculostomy. Ongoing management includes urological care, orthopedic interventions, physical and occupational therapy, and neurosurgical surveillance. 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, comprehensive lifelong care can substantially improve quality of life and functional outcomes.

Common questions about Open spinal dysraphism