An autopsy case of a syndrome with muscular atrophy, decreased subcutaneous fat, skin eruption and hyper γ-globulinemia: peculiar vascular changes and muscle fiber degeneration
An autopsy case of a syndrome with muscular atrophy, decreased subcutaneous fat, skin eruption and hyper γ-globulinemia: peculiar vascular changes and muscle fiber degeneration
复制标题
肌萎缩、皮下脂肪减少、皮疹、高γ球蛋白血症综合征尸检一例：特有的血管改变和肌纤维变性
作者：
K. Oyanagi;K. Sasaki;E. Ohama;F. Ikuta;A. Kawakami;N. Miyatani;T. Miyatake;S. Yamada
本文为首例常染色体隐性遗传、肌肉萎缩、肌挛缩、皮疹、高γ-球蛋白血症、皮下脂肪减少、智力低下和心电图异常综合征的尸检报告。骨骼肌表现为严重的、离散的、多灶性肌肉纤维化，取代了几个初级肌束。舌头、心脏和眼外肌的发现相同，但没有那么严重。受累肌束中，静脉、小静脉及动脉、小动脉呈中层增生、管腔狭窄。碎片可见小动脉内皮细胞变性，末梢小动脉管腔狭窄。肌肉中的周围神经相对保存较好。对这些发现的相关性和发病机制进行了讨论。
SummaryThis is the first autopsy case report of a syndrome with autosomal recessive inheritance, muscular atrophy, contracture, skin eruption, hyper γ-globulinemia, decreased subcutaneous fat, mental retardation and abnormal ECG findings. Skeletal muscles showed severe, discrete, multifocal muscular fibrosis which replaced several primary fasciculi. The tongue, heart and extraocular muscles showed identical but less severe findings. In the involved muscle fasciculi, veins and venules as well as arteries and arterioles showed medial hyperplasia and luminal constriction. Degeneration of endothelial cells of arterioles and narrowing of the lumen of terminal arterioles by the debris were observed. The peripheral nerves in the muscles were relatively well preserved. The correlation and pathogenesis of these findings are discussed.