Denouement and Discussion
Located in the lumbosacral area is a mass (a lipoma) that varies in size and has a soft consistency. A hemangioma, skin dimple, or tuft of hair may be present on the skin covering the lipoma. Although the mass may appear small, the intraspinal lipoma can be extensive. Neurologic signs vary from no findings to progressive neurologic loss usually involving the legs, bladder, and anal sphincter. Roentgenographic examination of the spine shows widening of the interpedicular distance, absent laminae and spinous processes, and various fusion anomalies of the vertebrae. Computed tomographic studies with metrizamide injected into the subarachnoid space (a myelogram) outlines the lipoma and its attachment to the spinal cord. The lumbar spinal cord is tethered posteriorly in a lower than normal position.
Because the type of inheritance pattern, if any, is not known, the risk of recurrence is uncertain. Prenatal diagnosis by