[A case of von Hippel-Lindau disease showing only spinal cord symptoms]

A rare case of von Hippel-Lindau disease showing only spinal cord symptoms is reported. This 18-year-old boy was admitted to our clinic because of urinary disturbance, slowly progressive muscle weakness and sensory disturbance of his body and four extremities. Myelography demonstrated an expanding spinal cord and a figure of complete block of contrast medium at the lower cervical level. Dilated syrinx below the level of Th-3 was shown by delayed scan (19 hr.) of metrizamide CT myelography. These findings suggest that metrizamide could pass through the cord substance from the subarachnoid space into a syrinx cavity. Contrast enhancement CT scan revealed a slightly high density mass lesion at the level of Th-1 and a more marked tumor stain at the level of C-5 and 6. Syringo-subarachnoid shunt was done but the spinal intramedullary tumors were so deeply situated in the spinal cord that total removal of them was abandoned. The pathological diagnosis was hemangioblastoma. There were also a hemangioma at the right retina and multiple small tumor stains in the cerebellum, but they presented no clinical symptoms.