• 대한한방소아과학회지
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• 제13권2호
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• pp.225-235
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• 1999

MELAS is the condition associated with mutant mtDNA that most closely mimics thrombotic cerebrovascular disease. Characteristic abnormalities are two. first, 'ragged-red fibers' in muscle biopsy. second, point mutation in the mitochondrial DNA analyses. The characteristic clinical presentations of MELAS are short stature, recurrent stroke like episodes, migraine-like headache, sensorineural hearng loss, glucose intolerance and neuropathy. We now report a case of MELAS syndrome having mitochondrial DNA mutation with an A to G transition at the 3,243rd position diagnosed in Chung-ang Hospital.

• Pediatric Infection and Vaccine
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• 제30권2호
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• pp.91-96
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• 2023

Enterovirus (EV) 71은 무균성 뇌수막염 환자로부터 처음 분리된 이후로 주로 수족구병으로 나타났으며 소아에서 전형적인 피부 발진, 구강 병변 및 발열을 동반한다. 피부 발진은 수포성으로 손과 발에 영향을 미치고 수포가 없는 반구진 양상일 수도 있으며 특히 어린 소아 및 유아에서는 팔꿈치, 무릎 그리고 엉덩이를 침범할 수도 있다. EV 71 감염으로 인한 신경학적 합병증은 매우 드물지만 주로 뇌간 뇌염으로 나타난다. 대근육 운동 발달 지연 이외에 건강했던 30개월 된 남아가 발열, 혼수 증상으로 내원하였고 입원 후 무호흡 및 호흡 정지 증상이 동반되어 뇌척수액 검사 및 뇌 MRI, 뇌파검사를 하였다. 검사 결과 뇌간 뇌염 및 미만성 대뇌 기능 장애가 확인되었고 비인두도말 및 대변 검체에서 EV 71이 검출되었으며 유전자 검사에서 myoclonic epilepsy with ragged red fiber syndrome이 확인되었다. 저자들은 기저미토콘드리아 질환으로 인해 인후 및 피부 발진의 증상 없이 발열 하루 만에 빠르게 진행되는 EV 71 감염으로 인한 뇌간 뇌염 1예를 보고하는 바이다.

• Annals of Clinical Neurophysiology
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• 제19권1호
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• pp.40-45
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• 2017

Background: Telbivudine is a nucleoside analogue used for the treatment of chronic hepatitis B, but it often develops mitochondrial toxicity leading to symptomatic myopathy. In this study, three patients with telbivudine induced myopathy were enrolled in order to investigate the nature and pathogenesis of mitochondrial toxicity caused by long-term use of telbivudine. Methods: Clinical features, laboratory findings, muscle pathology, and quantitation of mitochondrial DNA were studied in three patients. Results: Patients presented with progressive muscle weakness with high serum creatine kinase levels. Light microscopic findings of muscle pathology showed ragged red fibers that reacted strongly with succinate dehydrogenase stain, but negative for cytochrome c oxidase activities. Electron microscopy revealed abnormal mitochondrial accumulation with rod shaped inclusions. The quantitative peroxidase chain reaction showed a depletion of mitochondrial DNA in skeletal muscle of the patients. Conclusions: Nucleoside analogues including telbivudine are potent inhibitors of viral DNA polymerases. However, they are not specific for viral DNA and can disturb mitochondrial replication at the same time. All nucleotide analogues should be used with close clinical observation in order to avoid development of mitochondrial myopathy.

• Archives of Plastic Surgery
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• 제51권2호
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• pp.182-186
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• 2024

Kearns-Sayre syndrome (KSS) is a rare mitochondrial disease that affects young adults, due to a deletion of mitochondrial DNA and characterized by the triad: age of onset lower than 20 years, chronic progressive external ophthalmoplegia, and an atypical pigmentary retinopathy. It is also characterized by other endocrine, neurological, and especially cardiac impairment with a very high risk of cardiac complications during surgical procedures under all types of anesthesia. We report a case of KSS revealed by severe bilateral ptosis and confirmed by a muscle biopsy with "ragged red fibers." The ptosis was surgically managed by cautious Frontal suspension under local anesthesia "Frontal nerve block." Through this case, we discuss challenges in the management of KSS patients.

• Journal of Genetic Medicine
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• 제12권2호
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• pp.109-117
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• 2015

Purpose: Mitochondrial diseases are clinically and genetically heterogeneous disorders, which make their exact diagnosis and classification difficult. The purpose of this study was to identify pathogenic mitochondrial DNA (mtDNA) mutations in 2 Korean families with myoclonic epilepsy with ragged-red fibers (MERRF) and Leigh syndrome, respectively. Materials and Methods: Whole mtDNAs were sequenced by the method of mtDNA-targeted next-generation sequencing (NGS). Results: Two causative mtDNA mutations were identified from the NGS data. An m.8344A>G mutation in the tRNA-Lys gene (MT-TK) was detected in a MERRF patient (family ID: MT132), and an m.9176T>C (p.Leu217Pro) mutation in the mitochondrial ATP6 gene (MT-ATP6) was detected in a Leigh syndrome patient (family ID: MT130). Both mutations, which have been reported several times before in affected individuals, were not found in the control samples. Conclusion: This study suggests that mtDNA-targeted NGS will be helpful for the molecular diagnosis of genetically heterogeneous mitochondrial diseases with complex phenotypes.