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例1,男,年龄9个月。患儿出生4个月后,其母发现患儿四肢无力,眼神呆滞,对声音极敏感,易激怒,病情渐加重。5个月时,因腹泻抽搐于1995年8月12日住院。入院诊断为低血钙抽搐。经补液、补钙等治疗,抽搐未减轻,反而逐渐加重,频繁发作,且每次持续时间延长。对周围无反应。脑脊液正常。脑CT示弥漫性脑萎缩。眼底检查:双侧视神经萎缩,黄斑部见樱桃红点。四肢肌力Ⅲ级,腱反射活跃,腹壁反射消失,双侧病理反射阳性,肝脾正常。诊断为黑朦性痴呆症,自动出院后9天死亡。 例2,男,年龄7个月。与例1系同母生。患儿出
Example 1, male, age 9 months. Children born 4 months later, his mother found that children with limb weakness, glazed eyes, very sensitive to the sound, irritability, the disease gradually increased. At 5 months, she was admitted to hospital on 12 August 1995 due to diarrhea convulsions. Admission was diagnosed as hypocalcemia convulsions. After rehydration, calcium and other treatment, convulsions did not reduce, but gradually increased, frequent attacks, and each duration of extension. No reaction to the surroundings. Cerebrospinal fluid is normal. Brain CT showed diffuse brain atrophy. Fundus examination: bilateral optic atrophy, macular see cherry red dot. Grade Ⅲ limb muscle strength, tendon reflexes, abdominal reflex disappeared, bilateral pathological reflex, liver and spleen normal. Diagnosed with dementia darkness, nine days after discharge from hospital. Example 2, male, age 7 months. Same as Example 1. Children out