Lipomyelomeningocele

Lipomyelomeningocele (also known as lipomyelomeningocele or lipomeningomyelocele) is a form of occult spinal dysraphism, classified among closed neural tube defects. It is a congenital malformation in which a lipoma (fatty mass) is attached to the spinal cord and extends through a defect in the vertebral arches (spina bifida) into the subcutaneous tissue, often presenting as a visible lump in the lower back. Unlike open myelomeningocele, the spinal cord and its coverings remain covered by skin, which is why it is considered a "closed" defect. The condition primarily affects the nervous system and musculoskeletal system. The lipoma tethers the spinal cord, which can lead to progressive neurological deterioration as the child grows. Key clinical features include a subcutaneous fatty mass in the lumbosacral region, tethered cord syndrome, lower extremity weakness or asymmetry, foot deformities (such as clubfoot), bowel and bladder dysfunction (including urinary incontinence or retention), and sensory changes in the lower limbs. Cutaneous stigmata such as skin dimples, hemangiomas, or abnormal hair patches may also be present over the affected area. Symptoms may be present at birth or develop progressively during childhood as growth places traction on the tethered spinal cord. Diagnosis is typically made through clinical examination and confirmed with MRI of the spine, which reveals the lipoma-cord interface and the degree of tethering. Prenatal ultrasound may also detect the abnormality. Treatment is primarily surgical, involving neurosurgical untethering of the spinal cord and debulking of the lipoma to prevent or halt neurological deterioration. The timing and necessity of surgery remain subjects of clinical debate, particularly in asymptomatic patients. Some centers advocate prophylactic surgery to prevent future neurological decline, while others prefer close monitoring with intervention only when symptoms develop. Long-term follow-up is essential, as re-tethering can occur after surgery, and ongoing urological and orthopedic management may be needed.

Common questions about Lipomyelomeningocele