Sudanophilic leucodystrophyの1剖検例

AN AUTOPSY CASE OF SUDANOPHILIC LEUCODYSTROPHY

はじめに

　Leucodystrophyは先天性遺伝性代謝障害疾患で，髄鞘形成異常のため大脳半球白質に非炎症性の広範なびまん性脱髄巣が形成されることで特徴づけられるとされている^22）。

　1885年Pelizaeus^19）は1家系5例に認められた中枢神経系の遺伝性疾患を臨床的に報告し，さらに1910年Merz—bacher^15）は同一家系14例を報告し，病理学的にびまん性に大脳半球白質に脱髄がみられたと記載した。その後いくつかの類似の症例が報告され，これらの症例はleu—codystrophyという1つの疾患群にまとめられ，臨床的ならびに病理学的特徴から種々の分類が試みられており，そのうちのいくつかの型のものは代謝障害の機構が明らかにされてきた。すなわちmetachromatic leuco—dystrophyはsulfataseの欠乏によりsulfatideが異常に蓄積することがわかり^1），sulfatide lipidosisといわれるようになつた。またgloboid cell type leucodystrophy（Krabble's disease）はcerebroside sulfotransferaseの欠乏が見出されたという^30）31）。

A patient was a 33-year-old house wife, who had been healthy until Jan., 1966, when she became dull and rejected to do housekeeping. Next year she had urinary and fecal incontinence and gait disturbance. She became akinetic and mutistic in March, 1968. Gradually she was emaciated anddied of urinary infection on August 14, 1969.

Pathologically symmetrical diffuse demyelination with axonal involvement was seen at the bilateral cerebral hemispherical white matter mostly sparing the U-fibers. Demyelination was almost the same throughout the frontal, parietal, temporal and occi-pital lobe. Numerous sudanophilic neutral fat was seen with scanty gitter cells and prominent gliosis at the demyelinated white matter. There were nd accumulation of the metachromatic material nor perivascular cell infiltration. Nerve cells disappear-ed at the gray matter where the U-fibers were involved.