先天性全身性筋萎縮症（Krabbe）の1例

A CASE OF CONGENITAL GENERALIZED MUSCULAR ATROPHIES (KRABBE)

　従来，筋肉の慢性変性疾患と云えば，一般には進行性筋異栄養症しか知られていない現状であつた。しかし人体のかなり大きな部分を占める筋肉の疾患が，僅か1種類だけしかないとは思えない。筋肉疾患の様々なvarietiesを見出し，分類し，系統づけること，これが著者の年来意図するところである。

　著者は，恐らく乳児期に発病し，全身均等に分布する高度の筋萎縮及びそれに比例した運動機能障害を主症状とし，且つ非進行性経過を辿つた12歳男子例を経験した。諸種臨床検査では，筋肉系異常は明らかであつたが，進行性筋異栄養症に於ける所見とやや趣きを異にしていた。臨床像並びに経過はKrabbeの先天性全身性筋萎縮症と一致すると思われた。本疾患の報告は極めて少いので^6）7）8），ここに自験例を報告する次第である。

A case of congenital non-progressive myo-pathy, aged 12 yrs, was reported. The con-dition was considered to be most closely re-semble to the picture of a boy who was des-cribed nnder the title of congenital generali-zed muscular atrophies by Krabbe.

The disease which should be considered most seriously in the differential diagnosis in this case, may be the progresive muscular dystrophy. The authors think that this case could be differentiated from the progressive muscular dystrophy in the following respe-cts.

1. The onset of the disease was very early and probably congenital.

2. Muscle wasting distributed equally all over the body,with no relation to proximal or distal parts of the limbs.

3. There was no pseudohypertrophy of mu-scles in any part of the body.

4. Tendon reflexes were well retained.

5. The clinical course was non-progressive during the past ten years,even with some aspects of improvement.

6. Serum enzyme activities were essential-ly normal.