목적: 근육-눈-뇌(Muscle-eye-brain)병의 증례를 국내에서 처음으로 보고하고자 한다. 증례요약: 35개월 여아가 내사시와 눈떨림을 주소로 내원하였다. 환아는 3.45 kg, 39주로 태어났고, 성장발달지연과 발달성고관절탈구의 병력이 있었다. 환아의 부모는 이상이 없으나, 언니가 발달지연이 있었다. 혈액검사에서 creatinine phosphokinase와 lactate dehydrogenase가 높았다. 조절마비굴절검사에서 양안의 심한 근시난시가 있었다. 눈떨림이 관찰되었고, 근거리에서 교대프리즘가림검사로 20프리즘디옵터의 내사시가 있었다. 세극등 검사에서 하안검의 부안검과 경도의 후낭하백내장, 안저검사에서 양안 일차유리체의 잔여줄기, 망막변성, 비정상적인 혈관가지를 동반한 시신경이형성을 보였다. 시유발전위도는 정상이었고, 망막전위도의 진폭은 현저히 감소되었다. 뇌 자기공명영상에서 대뇌백질의 광범위한 T2신호 증가, 대뇌피질의 광범위한 경뇌회, 뇌교의 형성부전, 소뇌의 많은 낭종이 관찰되었다. 결론: 발달지연과 동반된 심한 근시, 백내장, 사시, 망막이상이 있을 때 전신질환의 동반 여부를 확인해야 할 것이며 근육-눈-뇌병의 진단에는 혈액검사와 뇌 자기공명촬영이 도움이 되었다.

Purpose: To describe a child with muscle‐eye‐brain disease as the first case report in Korea. Case Summary: A 35‐month‐old girl presented with esotropia and nystagmus since birth. She was born with a birth weight of 3.45 Kg at the gestational age of 39 weeks. She had a history of developmental delay and developmental dislocation of the hip. Her elder sister also had generalized weakness and mental retardation. The patient’s creatinine kinase and lactate dehydrogenase serum levels were high. Cycloplegic refraction showed a significant myopic astigmatism in both eyes. She showed nystagmus and 20 prism diopters of esotropia in the primary position with the alternative prism cover test. Slit lamp examination revealed a mild posterior subcapsular cataract and lower lid epiblepharon in both eyes. Funduscopic examination showed diffuse retinal degeneration with remnant hyaloids membranes in both eyes. Both optic nerves were dysplastic with abnormal vascular branching pattern. Flash visual evoked potential was normal and standard electroretinography showed decreased amplitude in both eyes. Brain magnetic resonance imaging (MRI) revealed diffuse T2 high signal lesions of the cerebral white matter, diffuse pachygyria of the cerebral cortices, pontine hypoplasia, and multiple small cerebellar cysts. Conclusions: When a child with developmental delay has ophthalmologic problems including severe myopia, cataract, strabismus and retinal degeneration, the systemic condition should be examined. In this case, in addition to the ophthalmologic findings, blood test and brain MRI were helpful for the diagnosis of muscle‐eye‐brain disease.

Purpose: To describe a child with muscle‐eye‐brain disease as the first case report in Korea. Case Summary: A 35‐month‐old girl presented with esotropia and nystagmus since birth. She was born with a birth weight of 3.45 Kg at the gestational age of 39 weeks. She had a history of developmental delay and developmental dislocation of the hip. Her elder sister also had generalized weakness and mental retardation. The patient’s creatinine kinase and lactate dehydrogenase serum levels were high. Cycloplegic refraction showed a significant myopic astigmatism in both eyes. She showed nystagmus and 20 prism diopters of esotropia in the primary position with the alternative prism cover test. Slit lamp examination revealed a mild posterior subcapsular cataract and lower lid epiblepharon in both eyes. Funduscopic examination showed diffuse retinal degeneration with remnant hyaloids membranes in both eyes. Both optic nerves were dysplastic with abnormal vascular branching pattern. Flash visual evoked potential was normal and standard electroretinography showed decreased amplitude in both eyes. Brain magnetic resonance imaging (MRI) revealed diffuse T2 high signal lesions of the cerebral white matter, diffuse pachygyria of the cerebral cortices, pontine hypoplasia, and multiple small cerebellar cysts. Conclusions: When a child with developmental delay has ophthalmologic problems including severe myopia, cataract, strabismus and retinal degeneration, the systemic condition should be examined. In this case, in addition to the ophthalmologic findings, blood test and brain MRI were helpful for the diagnosis of muscle‐eye‐brain disease.