内斜視で発見された福山型筋ジストロフィの1例

Esotropia as the initial manifestation in a case of Fukuyama congenital muscular dystrophy

要約　目的：内斜視を契機として発見された筋ジストロフィ症例の報告。症例：生後3か月の女児が内斜視として受診した。41週の正常分娩で生下時体重は3,182gであった。所見：両眼に視神経萎縮と網脈絡膜変性があった。小児科の検索で四肢筋力の低下，血清CPKの高値，磁気共鳴画像検査（MRI）での両側大脳半球の多小脳回と小脳の囊胞形成，上腕二頭筋の筋破壊があり，先天性筋ジストロフィが疑われた。遺伝子検査で福山型先天性筋ジストロフィの診断が確定した。結論：内斜視は福山型先天性筋ジストロフィの初発症状であり得る。

Abstract.　Purpose：To report a case of congenital muscular dystrophy of Fukuiyama with esotropia as the initial manifestation. Case：A 3-month-old female baby was referred to us for esotropia. She was born by normal birth after gestation of 41 weeks with birthweight of 3,182g. Findings：Both eyes showed optic atrophy and retinochoroidal degeneration. Systemic studies showed weakness of muscles in extremities, elevation of serum creatine phosphokinase（CPK）, and myogenic changes in biceps muscle. Magnetic resonance imaging（MRI）showed polymicrogyria in the cerebrum and cerebellar cystic lesions. These findings were suggestive of muscular dystrophy. Genetic analysis led to the diagnosis of Fukuyama congenital muscular dystrophy. Conclusion：This case illustrates that esotropia may be an initial sign of congenital muscular dystrophy.