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粘多糖病Ⅰ型又称承(?)病(Gargoylism)、胡勒氏(Hurltr)综合征,是由于酶的缺陷而引起粘多糖分解代谢障碍的疾病,临床比较少见,本科收治1例误诊为脑性瘫痪、上感、高热惊厥,报告如下: 患儿,男,22个月,住院号2271。因发热咳嗽天伴抽搐,于1987年5月16日入院。入院前3天起发热,轻咳,本行诊治。入院当天间断抽搐2次,每次约2分钟自停,发作表现神智不清,全身及肢体抽动,双眼上翻等。患儿系第一胎,足月顺产出生时正常,3个月时已能有意识的笑出声,认识妈妈,精神食欲均好,但不能抬头。3—4个月后生长发育缓慢,20个月仍不能竖头,不能独坐、独站。
Mucopolysaccharidosis type I, also known as disease (Gargoylism), Hurler’s syndrome (Hurltr), due to defects in the enzyme caused by mucopolysaccharide catabolic disorders, the clinical relatively rare, one undergraduate admitted to misdiagnosis Cerebral palsy, on the flu, febrile seizures, the report is as follows: Children, male, 22 months, hospital number 2271. Due to fever cough with convulsions, on May 16, 1987 admitted. 3 days before admission fever, light cough, the Bank diagnosis and treatment. Intermittent twitch 2 times on admission day, about 2 minutes each stop, episodes of delirium, body and limb twitching, eyes up and so on. Children with the first child, normal full-term birth at birth, 3 months has been able to conscious laughter, understanding of mom, spiritual appetite are good, but can not look up. 3-4 months after the slow growth and development, still can not be 20 months head, can not sit alone, stand alone.