Congential Myopathy with Uniform Type 1 Fiber Predominance and Type 2 Fiber Hypoplasia: Report of One Case

均一性第一型肌纖維過多及第二型肌纖生長不良這先天性肌病變：一病例報告

黃妙玲(Miao-Ling Huang) ； 蔡長海(Chang-Hai Tsai) ； 李政淳(Cheng-Chun Lee)

《Acta Paediatrica Sinica》 39卷1期 (1998/02) Pp. 62-64

https://doi.org/10.7097/APS.199802.0062

摘要

一名兩個月大的女屻，因自四十五日大時由於吸吮力差，餵奶時易發紺和嗆奶，而住進本院做進一步的檢查。其理學檢查發現有生長遲滯的現象，身長及體重均小於第三百分比，頭圍則約第十百分比；並有全身肌肉張生兒篩檢、生長激素、血液常規、電解質、肌肉酵素、肌電圖、週邊神經傳導速度等，皆在正常範圍。因懷疑爲先天性肌肉病變，故作肌肉切片檢查，證明第一型肌纖維過多，佔全部肌纖維之90%，成均一性規則排列，而第二型肌纖維生長不良之先天性肌肉病變。
此爲罕見之良性肌肉疾病，文獻上只有少數類似的病例被報告過。由於我們對其肌肉切片有完整的研究及其臨床過程有詳細的追蹤，且追溯患者之父親，亦有相同之肌肉疾患，故將此病例提出來報告。

關鍵字

先天性肌肉病變 ； 肌肉張力低下

並列摘要

A 2-month-old female infant, presented with frequent choking and cyanosis during feeding, and poor sucking capability since the age of 45 days. Growth retardation with body weight and length below the third percentile, and head girth below the tenth percentile, were noted on admission. Generalized hypotonia, mild proximal muscle weakness and diminished tendon reflex were also noted. A biopsy from the left quadriceps femoralis showed uniform type 1 fiber (90%) predominance, and a decrease in fiber size and number of type 2 fibers. A biopsy from her father revealed uniform type 1 predominance (99.8%) and 30% central nuclei change. The course of her illness was rather short, and the patient has developed normally since the age of 4 months. Significant improvement in muscle strength and normol intelligence were observed after 3 years of clinical follow-up.

並列關鍵字

congenital myopathy ； uniform type 1 fiber predominance ； type 2 fiber hypoplasia