Ophthalmoplegia in Mitochondrial Disease
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Purpose: To evaluate the classification, diagnosis, and natural course of ophthalmoplegia associated with mitochondrial disease. Materials and Methods: Among 372 patients with mitochondrial disease who visited our hospital between January 2006 and January2016, 21 patients with ophthalmoplegia were retrospectively identified. Inclusion criteria included onset before 20 years of age, pigmentary retinopathy, and cardiac involvement. The 16 patients who were finally included in the study were divided into three groups according to disease type: Kearns-Sayre syndrome (KSS), KSS-like, and chronic progressive external ophthalmoplegia (CPEO). Results: The prevalences of clinical findings were as follows: ptosis and retinopathy, both over 80%; myopathy, including extraocularmuscles, 75%; lactic acidosis, 71%; and elevated levels of serum creatine kinase, 47%. Half of the patients had normal magneticresonance imaging findings. A biochemical enzyme assay revealed mitochondrial respiratory chain complex I defect as the most common (50%). The prevalence of abnormal muscle findings in light or electron microscopic examinations was 50% each, while that of large-scale mitochondrial DNA (mtDNA) deletions in a gene study was 25%. We compared the KSS and KSS-like groups with the CPEO patient group, which showed pigmentary retinopathy (p<0.001), cardiac conduction disease (p=0.013), and large-scale mtDNA deletions (p=0.038). KSS and KSS-like groups also had gastrointestinal tract disorders such as abnormal gastrointestinal motility (p=0.013) unlike the CPEO group. Conclusion: Patients with KSS had gastrointestinal symptoms, which may indicate another aspect of systemic involvement. The presence of large-scale mtDNA deletions was an objective diagnostic factor for KSS and a gene study may be helpful for evaluatingpatients with KSS.
Abstract
Purpose: To evaluate the classification, diagnosis, and natural course of ophthalmoplegia associated with mitochondrial disease. Materials and Methods: Among 372 patients with mitochondrial disease who visited our hospital between January 2006 and January2016, 21 patients with ophthalmoplegia were retrospectively identified. Inclusion criteria included onset before 20 years of age, pigmentary retinopathy, and cardiac involvement. The 16 patients who were finally included in the study were divided into three groups according to disease type: Kearns-Sayre syndrome (KSS), KSS-like, and chronic progressive external ophthalmoplegia (CPEO). Results: The prevalences of clinical findings were as follows: ptosis and retinopathy, both over 80%; myopathy, including extraocularmuscles, 75%; lactic acidosis, 71%; and elevated levels of serum creatine kinase, 47%. Half of the patients had normal magneticresonance imaging findings. A biochemical enzyme assay revealed mitochondrial respiratory chain complex I defect as the most common (50%). The prevalence of abnormal muscle findings in light or electron microscopic examinations was 50% each, while that of large-scale mitochondrial DNA (mtDNA) deletions in a gene study was 25%. We compared the KSS and KSS-like groups with the CPEO patient group, which showed pigmentary retinopathy (p<0.001), cardiac conduction disease (p=0.013), and large-scale mtDNA deletions (p=0.038). KSS and KSS-like groups also had gastrointestinal tract disorders such as abnormal gastrointestinal motility (p=0.013) unlike the CPEO group. Conclusion: Patients with KSS had gastrointestinal symptoms, which may indicate another aspect of systemic involvement. The presence of large-scale mtDNA deletions was an objective diagnostic factor for KSS and a gene study may be helpful for evaluatingpatients with KSS.
참고문헌 (26)
- Eom S, "Cause of death in children with mitochondrial diseases", Pediatr Neurol, 66, pp.82~88 (2017)
- Yatsuga S, "MELAS: a nationwide prospective cohort study of 96 patients in Japan", Biochim Biophys Acta, 1820, pp.619~624 (2012)
- Eom S, "Preliminary study of neurodevelopmental outcomes and parenting stress in pediatric mitochondrial disease", Pediatr Neurol, 71, pp.43~49 (2017)
- Haas RH, "Mitochondrial disease : a practical approach for primary care physicians", Pediatrics, 120, pp.1326~1333 (2007)
- Finsterer J, "Mitochondriopathies", Eur J Neurol, 11, pp.163~186 (2004)
- López-Gallardo E, "CPEO and KSS differ in the percentage and location of the mtDNA deletion", Mitochondrion, 9, pp.314~317 (2009)
- Heidenreich JO, "Chronic progressive external ophthalmoplegia : MR spectroscopy and MR diffusion studies in the brain", AJR Am J Roentgenol, 187, pp.820~824 (2006)
- Bernier FP, "Diagnostic criteria for respiratory chain disorders in adults and children", Neurology, 59, pp.1406~1411 (2002)
- Joyce NC, "Muscle biopsy evaluation in neuromuscular disorders", Phys Med Rehabil Clin N Am, 23, pp.609~631 (2012)
- Skladal D, "The clinical spectrum of mitochondrial disease in 75 pediatric patients", Clin Pediatr(Phila), 42, pp.703~710 (2003)
- Munnich A, "Clinical presentation of mitochondrial disorders in childhood", J Inherit Metab Dis, 19, pp.521~527 (1996)
- DiMauro S, "Mitochondrial respiratory-chain diseases", N Engl J Med, 348, pp.2656~2668 (2003)
- Grönlund MA, "Ophthalmological findings in children and young adults with genetically verified mitochondrial disease", Br J Ophthalmol, 94, pp.121~127 (2010)
- Han J, "Ophthalmological manifestations in patients with Leigh syndrome", Br J Ophthalmol, 99, pp.528~535 (2015)
- 박성배, "Kearns-Sayre Syndrome -3 Cases Reports and Review of Clnical Feature-", Yonsei Medical Journal, 45(4), pp.727~735 (2004), 연세대학교의과대학
- Mkaouar-Rebai E, "A case of Kearns-Sayre syndrome with two novel deletions (9.768 and 7.253 kb) of the mtDNA associated with the common deletion in blood leukocytes, buccal mucosa and hair follicles", Mitochondrion, 10, pp.449~455 (2010)
- Young TJ, "Kearns-Sayre syndrome : a case report and review of cardiovascular complications", Pacing Clin Electrophysiol, 28, pp.454~457 (2005)
- García-Cazorla A, "Long-term follow-up of neonatal mitochondrial cytopathies : a study of 57 patients", Pediatrics, 116, pp.1170~1177 (2005)
- Debray FG, "Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases", Pediatrics, 119, pp.722~733 (2007)
- Scaglia F, "Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease", Pediatrics, 114, pp.925~931 (2004)
- Darin N, "The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities", Ann Neurol, 49, pp.377~383 (2001)
- Chawla S, "Kearns-Sayre syndrome presenting as complete heart block", Pediatr Cardiol, 29, pp.659~662 (2008)
- Sharma AK, "Classical triad of Kearns-Sayre syndrome", BMJ Case Rep, 2016 (2016)
- Kisler JE, "Mitochondrial diseases in childhood : a clinical approach to investigation and management", Dev Med Child Neurol, 52, pp.422~433 (2010)
- Choi HS, "Enteral tube feeding in paediatric mitochondrial diseases", Sci Rep, 7, pp.16909~ (2017)
- Finsterer J, "Overview on visceral manifestations of mitochondrial disorders", Neth J Med, 64, pp.61~71 (2006)