幼時より精神知能発達障害を呈したCentral neurofibromatosisの1剖検例

AN AUTOPSY CASE OF CENTRAL NEUROFIBROMATOSIS WITH MENTAL DEFECT

I．はじめに

　神経線維腫症neurofibromatosisすなわちvon Reck—linghausen氏病（以下R病と略す）は結節性硬化症などとならんで代表的母斑症であるが，皮膚に腫瘤，café aulait斑を欠く場合，単に発現する神経症状のみではその診断は困難である。われわれは生来知能低下を示し，青年期に至り多発性神経炎類似の症状を呈し，皮膚症状を全く欠き，剖検により脳脊髄神経系に形成異常，多種の腫瘍形成をみとめたR病の1例を経験したので報告する。

This 37-year-old male was admitted with the chief complaint of mental deficiency, loss of visual acuity, loss of hearing, difficulties in walking and muscular atrophy of the lower extremities. His mental defect had appeared since his infancy. The loss of visual acuity and hearing had developed since he was about 27 years old, and difficulties in walking and muscular atrophy of the lower ex-trimities appeared at the age of 31 when he was diagnosed as being suffering from Charcot-Marie-Tooth disease at a hospital. Five years later, he visited our hospital and was admitted with the provisional diagnosis of cerebral palsy and chronic polyneuritis.

Examinations which were made in the 17 days of hospitalization revealed decreased tendon reflexes of extremities, neurogenic pattern on electromyo-gram and increased amount of protein up to 2000 mg/dl in the cerebrospinal fluid. Cutaneous find-ings were negative including café-au-lait spots.

Autopsy, conducted half a year later, presented multiple neurilemmoma at the third, fifth and eighth cranial nerve roots and on the spinal nerve roots. In the hemispheres, the diverse pathological changes were recongnized, that is, meningioma and partial polymicrogyri (microscopically, hamarto-matous lesion containing meningioangiomatosis and glial heterotopia with the feature of astrocytoma), the latter being suspected to be related to the mental defect. Pure central neurofibromatosis is rare and this is probably the fourth case in Japan.