嗜酸性粒细胞性肌炎作为γ-肌聚糖病的首发症状

Eosinophilic myositis as presenting symptom in gamma-sarcoglycanopathy.

作者信息

Baumeister Sarah K, Todorovic Slobodanka, Milić-Rasić Vedrana, Dekomien Gabriele, Lochmüller Hanns, Walter Maggie C

机构信息

Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University, Ziemssenstr. 1a, 80336 München, Germany.

出版信息

Neuromuscul Disord. 2009 Feb;19(2):167-71. doi: 10.1016/j.nmd.2008.11.010. Epub 2009 Jan 23.

DOI:10.1016/j.nmd.2008.11.010

PMID:19167890

Abstract

The patient reported here presented with first symptoms at the age of 10 showing an abnormal gait, calf hypertrophy and winged scapulae. She was diagnosed with eosinophilic myositis after muscle biopsy. A second muscle biopsy at the age of 20 and subsequent genetic testing, however, revealed the underlying condition of a primary gamma-sarcoglycanopathy, or LGMD2C. To our knowledge, this is the first LGMD2C patient reported who initially presented with eosinophilic myositis. Eosinophilia has been reported previously in patients with Calpainopathy and Becker Muscular Dystrophy and might be an early, but transient feature of a wider range of muscular dystrophies.

摘要

本文报告的患者10岁时首次出现症状，表现为步态异常、小腿肥大和翼状肩胛。肌肉活检后，她被诊断为嗜酸性肌炎。然而，20岁时的第二次肌肉活检及随后的基因检测揭示了潜在疾病——原发性γ-肌聚糖病，即LGMD2C。据我们所知，这是首例最初表现为嗜酸性肌炎的LGMD2C患者。先前已有报道称，钙蛋白酶病和贝克型肌营养不良患者中存在嗜酸性粒细胞增多，嗜酸性粒细胞增多可能是更广泛的肌营养不良症的早期但短暂的特征。