A Case of Central Neurofibromatosis

Abstract

A boy with no family history of neurofibromatosis was born with cafe-au-lait spots and one cutaneous neurofibroma. His mental development was grossly retarded and he began having grand- mal attacks at 12 years. Anorexia, sleepiness and polydipsia suggested diabetes insipidus caused by a hypothalamic lesion, but a skull radiograph was normal. He died at 14 years. Autopsy showed multiple neurofibromata of the vagi, spinal nerve roots and nerves. The brain and spinal cord presented areas of diffuse and focal gliosis, and some of these lesions were hypertrophic, vix. in the hypothalamus, olfactory bulbs and at the level of the calamus scriptorius of the medulla. The white matter of the cerebral hemispheres showed widespread loss of myelin with sparing of "islands", as in the Pelizaeus-Merzbacher type of diffuse sclerosis.