Marinesco-Sjogren综合征(MSS)系一罕见的常染色体隐性遗传病,其特征表现为智力低下、白内障、小脑性共济失调,呐吃,眼震和震颤,此外尚有高促性腺激素性性腺机能低下(hypergonadotro pic hypogonadism)伴不育症,各种骨骼畸形,身材矮小,尚可并发肌病。作者对一个近亲繁殖家系中17列MSS病人进行了数年的观察和追踪,并重点分析了6例病人。例1:女性,父母系近亲婚配。出生后发育迟缓,18个月会坐,明显的躯干共济失调,患者不能站和行走,全身肌张力低,腱反射活跃,巴氏征(-)。CK高于正常,EMG和运动神经传导均正常。四头肌活检发现纤维大小不均,中央核增多,有变性,再生现象。电镜下发现肌膜下及肌原纤维间有 Marinesco-Sjogren’s syndrome (MSS) is a rare autosomal recessive disease characterized by mental retardation, cataracts, cerebellar ataxia, na eating, nystagmus and tremor, in addition to gonadotropin Hypogonadism (hypergonadotro pic hypogonadism) with infertility, a variety of skeletal deformities, short stature, can still be complicated by myopathy. The authors observed and tracked 17 MSS patients in an inbred pedigree for several years and focused on six patients. Example 1: Female, parents are close relatives of marriage. Postnatal growth retardation, 18 months sitting, apparent ataxia, patients can not stand and walk, low body tone, active tendon reflexes, Pakistan sign (-). CK is higher than normal, EMG and motor nerve conduction are normal. Quadriceps biopsy found that the fiber size is uneven, the central nucleus increased, degeneration, regeneration phenomenon. Electron microscope found under the sarcolemma and myofibrils