Higuchi S, Taku K, Fukuhara N, Hozumi I, Yamazaki M
Department of Neurology, National Saigata Hospital.
Rinsho Shinkeigaku. 1993 Jan;33(1):89-91.
Two patients with Marinesco-Sjögren syndrome in a family were characterized by autosomal recessive inheritance, congenital cataract, cerebellar ataxia, mental retardation, short stature and variable skeletal abnormalities. Muscle biopsy specimens showed replacement of muscle fibers by fat and fibrous tissue, a marked variation of fiber size and a rimmed vacuole formation. Nerve biopsy specimens showed a reduced number of myelinated nerve fibers in the sural nerves. Muscle CT revealed atrophy of the quadriceps femoris, semitendinosus, gastrocnemius and soleus muscles. Accordingly, extensor muscles in the thighs were more preferentially involved than flexor muscles in the legs.
一个家族中的两名患有 Marinesco-Sjögren 综合征的患者具有常染色体隐性遗传特征，伴有先天性白内障、小脑共济失调、智力发育迟缓、身材矮小以及各种骨骼异常。肌肉活检标本显示肌肉纤维被脂肪和纤维组织替代，纤维大小显著不一，并有镶边空泡形成。神经活检标本显示腓肠神经中有髓神经纤维数量减少。肌肉 CT 显示股四头肌、半腱肌、腓肠肌和比目鱼肌萎缩。因此，大腿的伸肌比小腿的屈肌更易受累。
