先天性肌营养不良：肌肉活检与临床特征的相关性

Congenital muscular dystrophy: correlation of muscle biopsy and clinical features.

作者信息

Parano E, Fiumara A, Falsperla R, Vita G, Trifiletti R R

机构信息

Pediatric Clinic of Catania, University of Catania, Italy.

出版信息

Pediatr Neurol. 1994 May;10(3):233-6. doi: 10.1016/0887-8994(94)90029-9.

DOI:10.1016/0887-8994(94)90029-9

PMID:8060426

Abstract

Six patients with congenital muscular dystrophy examined from January, 1990 to January, 1993 are presented. Vastus lateralis muscle biopsies were performed on all patients. Five of 6 patients had "pure" congenital muscular dystrophy without evidence of central nervous system disease. Of these 5 patients, 2 had mild courses, 2 moderate, and 1 severe. Possible correlation between severity of muscle pathology and severity of clinical course in "pure" congenital muscular dystrophy patients is discussed.

摘要

本文报告了1990年1月至1993年1月期间接受检查的6例先天性肌营养不良患者。所有患者均进行了股外侧肌活检。6例患者中有5例患有“单纯”先天性肌营养不良，无中枢神经系统疾病证据。在这5例患者中，2例病程轻度，2例中度，1例重度。讨论了“单纯”先天性肌营养不良患者肌肉病理严重程度与临床病程严重程度之间可能存在的相关性。