Abstract：
Hereditary gelsolin amyloidosis is an adult onset autosomal dominant disease with neurologic, ophthalmologic and dermatologic features that may be mistaken for Sjögren syndrome. We describe a case of a 68 year old female presenting with facial numbness and asymmetry, dry eyes, dry mouth and fatigue, originally diagnosed as Sjögren syndrome and treated with hydroxychloroquine. Due to her insidious progression of facial weakness with associated proximal muscle weakness she underwent a muscle biopsy, which demonstrated features of hydroxychloroquine induced myopathy and amyloid deposition. This subsequently led to targeted genetic testing, revealing an autosomal dominant c.640G > A pathogenic variant of the gelsolin gene. Therefore, this is a unique case of complex muscle pathology with features of a rare hereditary systemic amyloidosis an uncommon drug- induced myopathy.
摘要：
遗传性凝溶胶蛋白淀粉样变是一种成人发作的常染色体显性遗传病，可能被误认为干燥综合征的眼科和皮肤病学特征。我们描述了一个68岁女性面部麻木和不对称的案例，干眼,口干和疲劳，最初诊断为干燥综合征，并接受羟氯喹治疗。由于她隐匿的面部无力和相关的近端肌无力进展，她接受了肌肉活检，证明了羟氯喹诱导的肌病和淀粉样蛋白沉积的特征。这随后导致了有针对性的基因检测，揭示了常染色体显性遗传c.640G>凝溶胶蛋白基因的致病变体。因此,这是一个独特的复杂的肌肉病理，具有罕见的遗传性系统性淀粉样变性，一种罕见的药物诱发的肌病。
