LGMDR1 with Prominent Limb–Joint Contractures and Inflammatory Changes Misdiagnosed as Scleromyositis with a Novel CAPN3 Mutation: A Case Report

Y. Abida, H. Benrhouma, Emna Farhat, T. B. Younes, I. Habibi, H. Klaa, A. Reymond, I. Kraoua, I. Youssef‐Turki
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Abstract

Muscle diseases with prominent limb–joint contractures (LJCs) are a subgroup of rare neuromuscular disorders. Prominent LJCs are not specific to genetic myopathies. Myositis can also induce severe contractures, especially in the late stages. We report the case of a 12-year-old girl with a 3-year history of painful muscular weakness with generalized LJCs. The inflammatory pattern associated with positive anti-PM/ Scl antibodies on muscle biopsy allowed us to initially retain the diagnosis of scleromyositis. After 12 months of corticosteroids and immunosuppressive treatment, there was no clinical improvement, and creatine kinase levels remained high (over 10 times the normal value). A second muscle biopsy showed persistent inflammatory infiltrate with the appearance of dystrophic features. Immunohistochemical analysis showed the absence of class 1 major histocompatibility complex expression on muscle fibres, raising the possibility of the diagnosis of muscular dystrophy. Whole-exome sequencing revealed a missense homozygous novel mutation c.386G>T (p.Arg129Ile) on the calpain 3 gene, finally confirming the diagnosis of autosomal recessive limb–girdle muscular dystrophy recessive type 1 (or calpainopathy). This case report highlights the diagnostic challenges and the importance of a comprehensive evaluation in cases of muscle diseases with prominent LJCs.
伴有明显肢体关节挛缩和炎症改变的LGMDR1被误诊为伴有新型CAPN3突变的硬肌炎1例
伴有明显肢体关节挛缩(LJCs)的肌肉疾病是一种罕见的神经肌肉疾病。突出的LJCs不是遗传性肌病所特有的。肌炎也可引起严重的挛缩,尤其是在晚期。我们报告的情况下,一个12岁的女孩与疼痛的肌肉无力3年的历史与广泛性ljc。肌肉活检中与抗pm / Scl抗体阳性相关的炎症模式使我们最初保留了硬肌炎的诊断。经过12个月的皮质类固醇和免疫抑制治疗,没有临床改善,肌酸激酶水平仍然很高(超过正常值的10倍)。第二次肌肉活检显示持续炎症浸润,表现为营养不良特征。免疫组化分析显示肌纤维上没有1类主要组织相容性复合物的表达,提高了肌营养不良诊断的可能性。全外显子组测序结果显示calpain 3基因上有一个错义纯合子突变c.386G>T (p.a g129ile),最终确诊为常染色体隐性隐性肢带肌营养不良隐性1型(或calpainopathy)。本病例报告强调了诊断的挑战和综合评估的重要性,在肌肉疾病的情况下,突出的LJCs。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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