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MELAS Syndrome (A Case Report) : MELAS증후군 (증례보고)
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Myung, Ho Jin | - |
dc.contributor.author | Kim, Jong Sung | - |
dc.contributor.author | Seo, Yeon Lim | - |
dc.contributor.author | Chi, Je G. | - |
dc.date.accessioned | 2009-08-06T11:13:13Z | - |
dc.date.available | 2009-08-06T11:13:13Z | - |
dc.date.issued | 1988-09 | - |
dc.identifier.citation | Seoul J Med, Vol.29 No.3, pp. 315-322 | - |
dc.identifier.issn | 0582-6802 | - |
dc.identifier.uri | https://hdl.handle.net/10371/6285 | - |
dc.description.abstract | MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis,
and stroke-like episode) is a rare and currently incompletely defined mitochondrial disease involving mainly muscle and brain. We have recently seen a 17-year-old male patient who, we believe, is the first Korean case. The patient showed the classical picture of MELAS: short stature, generalized limb weakness, lactic acidemia, basal ganglia calcification, migraine-like headache and recurrent strokes with subsequent hemiparesis, hemianopia, and seizures. Electronmicroscopic examination confirmed the diagnosis by demonstrating numerous abnormal muscle mitochondria which contained paracrystalline inclusion bodies. A brief discussion of current status, inherent problems, and possible pathogenic mechanisms of this syndrome will conclude our report. ; MELAS증후군은 최근 기술된 사립체질환의 하나로서 사립체성 근육 및 뇌질환, 유산증, 뇌졸중양 증상 등을 특징으로 한. 저자들은 최근 우리나라의 첫 증례로 생각되는 환자를 경험하였기에 보고하는 바이다. 환자는 왜소한 체구의 17세 남자로서 근무력, 유산증, 기저핵의 석회화, 편두통양 두통, 수 회의 뇌졸증 및 이에 따른 반신마비, 시야결손, 경련 등의 증상을 나타내었다. 근육생검상 경한 근육질환이 나타났으며, 전자현미경 소견상 봉입체를 갖는 비정상적인 사립체가 관찰되었다. | - |
dc.language.iso | en | - |
dc.publisher | Seoul National University College of Medicine | - |
dc.subject | MELAS syndrome | - |
dc.subject | Korean case | - |
dc.title | MELAS Syndrome (A Case Report) | - |
dc.title.alternative | MELAS증후군 (증례보고) | - |
dc.type | SNU Journal | - |
dc.contributor.AlternativeAuthor | 명호진 | - |
dc.contributor.AlternativeAuthor | 김종성 | - |
dc.contributor.AlternativeAuthor | 서연림 | - |
dc.contributor.AlternativeAuthor | 지제근 | - |
dc.citation.journaltitle | 서울 의대 잡지 | - |
dc.citation.journaltitle | 서울 의대 학술지 | - |
dc.citation.journaltitle | Seoul Journal of Medicine | - |
dc.citation.endpage | 322 | - |
dc.citation.number | 3 | - |
dc.citation.pages | 315-322 | - |
dc.citation.startpage | 315 | - |
dc.citation.volume | 29 | - |
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