小児白内障が急速に進行したMarinesco-Sjögren症候群の1例

Rapid progression of infantile cataract in a case of Marinesco-Sjögren syndrome

要約　目的：小児白内障が急速に進行したMarinesco-Sjögren症候群（MSS）の1症例の報告。症例：1歳5か月の男児が小児科でMSSと診断され，眼科を紹介受診した。生後7か月から運動発達遅滞があり，筋生検と遺伝子検査でMSSと診断された。所見：眼科的に異常はなく，3か月ごとに経過を観察した。2歳5か月のとき，両眼の水晶体後囊下に淡い混濁が生じ，4か月後に完全白内障になった。その1か月後に水晶体吸引と前部硝子体切除を両眼に行った。6歳時の視力は左右とも0.3である。結論：MSSに併発する白内障は，生後のある時期に急性発症し，悪化することがある。

Abstract.　Purpose：To report rapid progression of infantile cataract in a case of Marinesco-Sjögren syndrome（MSS）. Case：A 17-month-old male infant was referred to us for MSS. He had shown retarded motor function since 7 months of age. Muscle biopsy and genetic studies led to the diagnosis of MSS. Findings：No ophthalmological disorders were present initially. Posterior subcortical opacity appeared in both eyes at the age of 2 years 5 months. It became total cataract 4 months later and was treated by phacoemulsification-aspiration and anterior vitrectomy one month later. Both eyes showed visual acuity of 0.3 at the age of 6 years. Conclusion：This infant illustrates that cataract in MSS may become manifest postnatally followed by rapid progression.