Intramyelin Splitting in the Spongiform Lesions of Leigh Syndrome

Leigh症候群海綿樣病灶之髓鞘膜分裂現象

夏文傑(Wen-Jye Shian) ； 遲景上(Ching-Shiang Chi) ； 麥淑珍(Suk-Chun Mak)

《Acta Paediatrica Sinica》 34卷4期 (1993/08) Pp. 308-313

摘要

一位五個月大之男嬰，因發育遲緩，陣發性呼吸暫停，代謝性酸血症及肌抽躍發作而入院，診斷為Leigh症候群，其腦部磁振照影之T1橫切面，在兩側殼核有對稱性低訊號，而T2矢狀切面在腦幹有直線高訊號；肌肉切片之電鏡可發現有不正常粒腺體堆積在胞漿膜之下，於病人死亡時，立刻取得少量之心肌，肝臟及腦幹之組織，在光學顯微鏡之下，這些組織均有空泡樣，而腦幹組織中也有發炎細胞浸潤及血管增生。在電子顯微鏡之下，腦幹海綿樣病灶處，有髓鞘膜分裂之現象；我們認為這一現象，可能在Leigh症候群致病機轉上，扮演重要角色。

並列摘要

A 5-month-old male infant, diagnosed as Leigh syndrome, presented with developmental delay, episodic apnea, metabolic acidosis, and myoclonic seizures. The magnetic resonance image of brain showed multiple symmetric low signals over the putamen in the T1-weighted axial view and linear high signal over the brainstem in the T2-weighted sagittal view. On electron microscopy, subsarcolemmal aggregation of abnormal mitochondria in muscle cells were found via biopsy. Small samples of myocardium, liver and brainstem, obtained via necropsy, were subjected to pathological examinations. On light microscopy, vacuoles were found in the myocardium and hepatocytes, while spongiform lesions in the neuropils, round cell infiltration, and vascular proliferation were observed in the brainstem. On electron microscopy, intramyelin splittings were observed in the spongiform lesions. We believe that intramyelin splitting must play an important role in the pathogenesis of spongiform lesions in Leigh syndrome.

並列關鍵字

Leigh syndrome ； spongiform lesion ； intramyelin splitting