Congenital Muscular Dystrophy: Report of One Case

先生性肌肉失養症：一病例報告

梁偉華(Wei-Hua Liang) ； 林嘉盛(Jai-Trung Lin) ； 蕭柳青(Liu-Ching Hsiao) ； 林守田(Shou-Tien Lin)

《Acta Paediatrica Sinica》 36卷6期 (1995/12) Pp. 442-444

https://doi.org/10.7097/APS.199512.0442

摘要

我們報告一個在出生後不久就患有全身肌肉張力低下的新生兒病例。病人血中的creatine kinase相當的高。左側股直肌所做的肌肉切片顯示了肌肉纖維的尺寸大小不一，幷且被脂肪和結締組纖所取代，還可見到肌纖維的壞死和再生。腦部的核磁共振檢查可看出是正常的腦部發育。依照臨床症狀、實驗室發現和肌肉切片的結果，診斷爲先天性肌肉失養症。

關鍵字

先天性肌肉失養症 ； 肌肉切片

並列摘要

A case is reported of a newborn who presented with generalized hypotonia shortly after delivery. Creatine Kinase (CK) was highly elevated. Muscle biospy of the rectus femoris muscle revealed varying sized muscle fibers, displacement by fat and connective tissues, necrosis and regeneration of the muscle fibers. Magnetic resonance imaging (M.R.I) of the brain showed normal development, compatible with the patient's age. Congenital muscular dystrophy was diagnosed from clinical manifestations, laboratory findings, and the results of muscle biopsy.

並列關鍵字

congenital muscular dystrophy ； muscle biopsy