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患者男,11岁.第2胎足月顺产,出生时体重3000g.其姐智力、发育正常,健在.患者出生后40天高热,3月时出现频繁摇头及双眼球震颤,外埠医院诊为“大脑发育不全”,经服γ—氨酪酸及谷氨酸后症状缓解。平素患有哮喘性支气管炎,常反复发作。自幼食量较大,5岁后肥胖明显.1983年因两眼视物不清,夜晚不能行走而再次求诊。患儿父母为第2代表兄妹联姻,追溯上代无类似患者.体检:BP 13.6/9.3kPa,满月脸,体肥胖.心肺听诊正常.腹软,肝脾未及.肘关节外翻.手掌宽,厚、指
The patient male, aged 11. The second birth of full-term birth, the birth weight of 3000g. The sister intelligence, normal development, healthy in patients with 40 days after birth, fever, frequent shaking his head in March and double nystagmus, Brain hypoplasia, "after the service of γ-aminobutyric acid and glutamate symptoms ease. Usually suffering from asthmatic bronchitis, often repeated attacks. Since the beginning of larger appetite, obesity after 5 years of age obviously .1983 due to two eyes blurred, not walking at night and seek medical attention again. Parents with children as the second representative of the marriage of siblings, tracing back to the previous generation of similar patients. Physical examination: BP 13.6 / 9.3kPa, full moon face, body fat. Cardiopulmonary auscultation normal. Abdominal soft, liver and spleen not. Elbow valgus. Thick, refers to