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진행성 양측 백내장이 동반된 미토콘드리아 질환 1례

Other Titles
 A Case of Mitochondrial Respiratory Chain Defect with Progressive Bilateral Cararacts 
 이순이  ;  이영목 
 Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지), Vol.18(3) : 95-98, 2018 
Journal Title
Journal of the Korean Society of Inherited Metabolic Disease(대한유전성대사질환학회지)
Issue Date
Mitochondria ; Respiratory chain complex ; Lactic acidosis ; Cataract
A striking feature of mitochondrial disorders is the vast heterogeneity in their clinical symptoms that ranges from a single organ to severe multisystem involvement. Though a variety of ocular symptoms such as ptosis, pigmentary retinal degeneration, external ophthalmoplegia, and optic nerve atrophy can occur in association with mitochondrial cytopathies, progressive bilateral cataracts are rare among their ocular findings. A 5-year-old girl with no previous medical history came to our hospital presenting symptoms of seizure. She started showing progressive developmental regression, increased seizure frequency, hypotonia, general weakness, dysphagia and decreased vision. Lactic acidosis was noted in metabolic screening test and we confirmed mitochondrial respiratory chain complex I defect in spectrophotometric enzyme assay using the muscle tissue. Progressive bilateral cataracts then developed and were fully evident at the age of 7. She underwent cataract extraction with posterior chamber lens implantation. We are reporting a case of mitochondrial respiratory chain defect with multiorgan involvements including bilateral progressive cataract, an uncommon ocular manifestation. Ophthalmologic evaluation is highly recommended not to overlook the possible ocular manifestations in mitochondrial disorders.
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Lee, Young Mock(이영목) ORCID logo https://orcid.org/0000-0002-5838-249X
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