Roussy-Lévy症候群の1家系

A PEDIGREE OF ROUSSY-LÉVY SYNDROME

I．はじめに

　RoussyおよびLévy^1）は1926年，起立歩行障害，全深部反射消失，両側凹足を呈せる1家系を報告し，一部の症例には手の運動障害や手掌の筋萎縮を呈することを述べた。

　これより先，Marie（1906）　Boveri （1911）は腓骨筋萎縮と末梢神経肥厚のある家系に遺伝性失調症のおこることを述べ，Spiller^2）（1910）はFriedreich病（以下F病と略す）に筋萎縮の合併せる2例を報告し，筋萎縮が四肢の末端に限局している点は神経性進行性筋萎縮症（Charcot-Marie-Tooth病（以下CMT病と略す））に類似していることを強調した。以後F病とCMT病との合併例，または両疾患が同一家系内に現われたという報告は少なくない。

A clinical study of the syndrome recorded by Roussy and Lévy has been made in a fami-ly in which three members were affected. Bi-lateral pes cavus, absent deep reflexes and flattening of the thenar and hypothenar emi-nences were observed in these cases. The foot deformity was noticed early in chidfood and difficulty in running was also noted dur-ing their primary school life, but there were no trouble in walking in all cases. No motor ataxia, sensory disturbances, kyphoscoliosis or muscular atrophy of the lower extremities were observed. In one case generalized con-vulsion occurred when the patient was 21 years of age and in another patient congenital cata-ract was observed. The relation of this syn-drome to Friedreich's ataxia and Charcot-Ma-rie-Tooth's disease was shortly discussed.