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Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episode (Melas) Syndrome: A Case Report
粒腺體肌肉腦病變、乳酸性酸中毒暨類中風樣發作症候群病例報告
摘要
病童為十二歲男性，身高為122公分，體重18公斤，皆在三個百分等級以下，母親覺得最近兩年生長遲緩更為嚴重。病童於今年三月因劇烈頭痛，嘔吐至地方診所求診，服藥後並未改善，而且產生抽筋現象，並造成神智昏迷，由於持續抽筋及昏迷，被送至急診室就診，病人至急診室峙，神經學檢查發現神智是呆滯（stupor），瞳孔大小兩側皆為4公厘，並且有光反射，無視乳突水腫現象，腦部電腦斷層檢查並無發現出血現象，但卻意外發現兩側基底核對稱性鈣化。入院後，腦部磁振造影發現左側顳葉及兩側小腦半球有急性缺血，兩側枕葉白質有缺血傷害。在質子磁振造影分光法（proton MR spectroscopy）則發現中樞神經系統有乳酸中毒現象。上述檢查，明白顯示這是一個MELAS症候群的病人，因此安排肌肉切片磁查，發現有破碎的紅色肌纖維（ragged-red fibers），顯示病人有粒腺體病變。由於病人符合此症候群的三個要件，因此診斷為MELAS症候群。
並列摘要
In this paper, a case of mitochondrial myopathy (MELAS) confirmed by muscle biopsy and magnetic resonance imaging (MRI) studies was reported. The 12-year-old male, with history of 2 episodes of stroke-like syncope in recent 2 years, was conflicted with severe headache and several episodes of vomiting 2 days before admission. The above symptoms were exacerbated and associated with generalized tonic-clinic seizures and conscious disturbance. An emergent brain computer topography (CT) revealed bilateral symmetric calcification of basal ganglia. The magnetic resonance imaging (MRI) showed old and new ischemic lesions in temporal, occipital lobe and bilateral cerebellar hemispheres. To differentiate MELAS syndrome from metabolic disorders, muscle biopsy was performed. The biopsy demonstrated a finding compatible with mitochondrial myopathy showing obvious ragged-red fibers in the trichrome stain so that MELAS syndrome was diagnosed.
延伸閱讀
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