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肝豆状核变性是常染色体遗传性疾病,儿科中比较少见。由于临床表现多样化而容易误诊。 病例 男,6个月。因发热、咳嗽1月余,间断抽搐20余天,于1996年7月27日入院。1个月前因感冒后开始发热、咳嗽,经当地治疗,病情未见好转,并于发病后10天出现抽搐,抽搐时四肢强直,角弓反张,大小便失禁,神志不清,持续时间30秒至2分钟不等,每日发作7～15次,抽搐后精神差。体温在38℃左右。体检:T38℃,脉搏110次/分,呼吸30次/分,体重7千克。发育中等,神志清,前囟1厘米×1厘米,平坦。瞳孔等大等圆,对光反应正常。两肺可闻
Hepatolenticular degeneration is an autosomal genetic disease, relatively rare in pediatrics. Due to the diversity of clinical manifestations, it is easy to misdiagnosis. Case male, 6 months. Due to fever, more than 1 month cough, intermittent seizures more than 20 days, on July 27, 1996 admitted. 1 month ago after the onset of a cold fever, cough, local treatment, the condition did not improve, and 10 days after the onset of convulsions, convulsions limb stiffness, angle arch anti-Zhang, incontinence, confusion, duration 30 seconds to 2 minutes range, 7 to 15 times a day attack, poor spirit after twitching. Body temperature around 38 ℃. Physical examination: T38 ℃, pulse 110 beats / min, breathing 30 beats / min, weight 7 kg. Moderately developed, conscientious, bregma 1 cm × 1 cm, flat. Pupil and other large round, normal reaction to light. Two lungs can be heard