Symptomatic hamartoma of the spinal cord associated with neurofibromatosis type 1. Case report

The authors present a case in which a symptomatic hamartoma was found in the spinal cord of a patient with neurofibromatosis type 1 (NF-1). This 52-year-old woman presented with painful urinary incontinence. Magnetic resonance (MR) imaging revealed an intramedullary lesion within the lower thoracic spinal cord and conus medullaris, which was surgically removed. Pathological investigation showed a hamartomatous lesion consisting of glial cells, ganglion cells, abundant disoriented axons, and thin-walled vessels. This case provides a pathological correlate to the hamartomatous lesions demonstrated on MR imaging in patients with NF-1 and illustrates that these benign lesions may become symptomatic and require neurosurgical intervention.