Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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A Case of Mitochondrial Respiratory Chain Defect with Progressive Bilateral Cararacts

진행성 양측 백내장이 동반된 미토콘드리아 질환 1례

  • Lee, Soonie (Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine) ;
  • Lee, Young-Mock (Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine)
  • 이순이 (연세대학교 의과대학 소아과학교실) ;
  • 이영목 (연세대학교 의과대학 소아과학교실)
  • Published : 2018.12.31
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Abstract

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.

미토콘드리아 질환은 단일 장기에서부터 여러 장기에 걸쳐 침범할 수 있다는 임상 증상의 광범위한 이질성이 특징이다. 안검하수, 색소 망막 퇴화, 외안근 마미, 시신경 위축 등과 같은 다양한 안구 증상이 미토콘드리아 질환에서 함께 나타날 수 있지만, 진행성 양안 백내장은 미토콘드리아 질환의 안과적 증상에서 매우 드물다. 저자들은 미토콘드리아 호흡 연쇄 복합체 결핍 환자에서 흔치 않은 안구 발현 현상인 진행성 양안 백내장 침범 사례를 경험하였기에 보고하는 바이다.

Keywords

References

  1. Ciulla TA, North K, McCabe O, Anthony DC, Korson MS, Petersen RA. Bilateral Infantile cataractogenesis in a patient with deficiency of complex I, a mitochondrial electron transport chain enzyme. Pediatr Ophtalmol Strabismus 1995;32:378-82.
  2. Debray FG, Lambert M, Chevalier I, Robitaille Y, Decarie JC, Shoubridge EA, et al. Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases. Pediatrics 2006;119:722-33.
  3. Garcia-Cazorla A, De Lonlay P, Nassogne MC, Rustin P, Touati G, Saudubray JM. Long-term followup of neonatal mitochondrial cytopathies: a study of 57 patients. Pediatrics 2005;116:1170-7. https://doi.org/10.1542/peds.2004-2407
  4. Lee HF, Lee HJ, Chi CS, Tsai CR, Chang P. Corneal clouding: an infrequent opthalmic manifestation of mitochondrial disease. Pediatr Neurol 2006;34:464-6. https://doi.org/10.1016/j.pediatrneurol.2005.12.002
  5. Scaglia F, Towbin JA, Craigen WJ, Belmont JW, Smith EO, Neish SR, et al. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics 2004;114:925-31. https://doi.org/10.1542/peds.2004-0718
  6. Schmieldel J, Jackson S, Schafer J, Reichmann H. Mitochondrial cytopathies J Neurol 2003;250:267-77. https://doi.org/10.1007/s00415-003-0978-3
  7. Eom S, Lee HN, Lee S, Kang HC, Lee JS, Kim HD. Cause of death in children with mitochondrial disease. Pediatr Neurol 2017;66:82-8. https://doi.org/10.1016/j.pediatrneurol.2016.10.006
  8. Finsterer J. Mitochondriopathies. Eur J Neurol 2004;11:163-86. https://doi.org/10.1046/j.1351-5101.2003.00728.x
  9. Gronlund MA, Honarvar AK, Andersson S, Moslemi AR, Oldfors A, Holme E, et al. Ophthalmological findings in children and young 285 adults with genetically verified mitochondrial disease. Br J Ophthalmol 2010;94:121-7. https://doi.org/10.1136/bjo.2008.154187
  10. Rose LV, Rose NT, Elder JE, Thorburn DR, Boneh A. Ophthalmologic presentation of oxidative phosphorylation diseases 287 of childhood. Pediatr Neurol 2008;38:395-7. https://doi.org/10.1016/j.pediatrneurol.2008.02.003