양안 눈꺼풀처짐과 안구운동장애를 동반한 형제에서 조기 발병된 눈인두근육퇴행위축병증 2예
Two Cases of Oculopharyngeal Muscular Dystrophy in Brothers with Ptosis and Eye Movement Disorder
방슬기, 남상휴, 이진산, 박성혜, 강민석, 김태기, 진경현,
소속 상세정보
방슬기 ( Bang Seul-Ki )
Kyung Hee University School of Medicine Kyung Hee University Hospital Department of Ophthalmology
남상휴 ( Nam Sang-Hyu )
Kyung Hee University School of Medicine Kyung Hee University Hospital Department of Ophthalmology
이진산 ( Lee Jin-San )
Kyung Hee University School of Medicine Kyung Hee University Hospital Department of Neurology
박성혜 ( Park Sung-Hye )
Seoul National University College of Medicine Seoul National University Children’s Hospital Department of Pathology
강민석 ( Kang Min-Seok )
Kyung Hee University School of Medicine Kyung Hee University Hospital Department of Ophthalmology
김태기 ( Kim Tae-Gi )
Kyung Hee University School of Medicine Kyung Hee University Medical Center Department of Ophthalmology
진경현 ( Jin Kyung-Hyun )
Kyung Hee University School of Medicine Kyung Hee University Hospital Department of Ophthalmology
Abstract
목적: 만성 진행성 외안근마비병증 의심 하에 경과 관찰 중이던 형제에서, 이후 조기 발병된 눈인두근육퇴행위축병증으로 진단된 2예를 경험하였기에 이를 보고하고자 한다.
증례요약: 형제 관계인 15세, 13세 남자 환자가 6년 전부터 지속된 복시 증상을 주소로 내원하였다. 형의 경우 내원 당시 교정시력은 양안 0.6이었으며, 프리즘교대가림검사상 25프리즘디옵터의 외편위를 보였다. 전 방향의 안구운동제한과 함께 양안의 눈꺼풀처짐이 관찰되었으며, 안저검사상 양안 황반부종이 관찰되었다. 동생은 내원 당시 교정시력 좌안 1.0이었고, 프리즘교대가림검사상 45프리즘디옵터의 외편위를 보였다. 형과 마찬가지로 전 방향으로 안구운동제한과 양안 눈꺼풀처짐 소견이 관찰되었다. 두 환자 모두 만성진행성 외안근마비병증 의증으로 진단하고 근생검 및 신경학적 평가를 위해 신경과로 의뢰되었다. 신경과에서 시행한 근생검 결과, 형제 모두 눈인두근육퇴행위축병증으로 진단되었다.
결론: 눈꺼풀 및 눈운동제한 증상을 가진 젊은 환자에서, 기존의 전형적 양상이 아닌 조기 발병 눈인두근육퇴행위축병증의 사례를 국내에서 처음으로 보고함에 그 의미가 있다.
Purpose: To report two cases of early onset oculopharyngeal muscular dystrophy, which were suspected to be chronic progressive external ophthalmoplegia.
Case summary: Case 1, a 15-year-old male and Case 2, a 13-year-old male brother, visited the clinic with persistent diplopia 6 years prior. The older brother’s best-corrected visual acuity was 0.6 in both eyes and showed an exodeviation of 25 prism diopters. Bilateral ptosis was observed with ocular muscle movement limitations in all directions, and bilateral macular edema was found on fundus examinations. The younger brother had a best-corrected visual acuity of 1.0 in both eyes and showed exodeviation of 45 prism diopters. Bilateral ptosis and ocular muscle movement limitations were also observed. Both patients were suspected to have chronic progressive external ophthalmoplegia and were referred to a neurologist for a neurological examination and muscle biopsy. The muscle biopsies showed that both patients were diagnosed with oculopharyngeal muscular dystrophy.
Conclusions: It is important, initially, to report a case of early onset oculopharyngeal muscular dystrophy that has eyelid and eye movement symptoms, but no other typical symptoms.
키워드
Blepharoptosis; Chronic progressive external ophthalmoplegia; Oculopharyngeal muscular dystrophy
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