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临床资料本组3例病人为亲兄妹,2男1女,年龄分别为7、5和2岁,最小者为女性。3例病人均以同样方式发病,即出生后6个月内均正常,6个月后即逐渐出现发音低沉,动作笨拙,全身消瘦、无力、僵硬,不能翻身和坐立,并伴有咽无力、呛咳、流涎、智力低下等。三兄妹分别为第二、第四和第六胎,均为足月顺产。否认有产后窒息、黄疸、感染及疫苗接种史。父母均健在,系非近亲结婚,否认有类似疾病家族史。体检:全身消瘦,呈呆傻状,眼斜视,视力和听力均差。心肺腹部未见异常。四肢肌张力增高,肌力Ⅰ°～Ⅱ°,有不自主震颤,腱反射亢进,双侧锥体束征(+)。腰穿检查未发现异常;尿沉渣甲苯胺兰染色可见异染色颗粒;染色体检查正常。
Clinical data The 3 patients in this group were siblings, 2 males and 1 females, aged 7, 5 and 2 years, respectively, the smallest of females. All 3 patients were diagnosed in the same way, that is, within 6 months after birth, they all became normal. After 6 months, they gradually developed low voice, clumsy movements, emaciation, weakness, stiffness, unable to stand up and stand with pharyngeal weakness , Cough, salivation, mental retardation and so on. Three siblings were the second, fourth and sixth child, all full-term birth. Denied having postpartum asphyxia, jaundice, infection and vaccination history. Parents are healthy, non-relatives marry, denied a family history of similar diseases. Physical examination: body weight loss, was stupid, strabismus, visual acuity and hearing are poor. No abnormal heart and lung abdomen. Limb muscle tension increased muscle strength Ⅰ ° ~ Ⅱ °, with involuntary tremors, tendon hyperreflexia, bilateral pyramidal tract signs (+). Waist wear inspection found no abnormalities; urinary sediment toluidine blue staining visible staining particles; chromosome examination was normal.