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粘多糖病,为一种遗传性代谢紊乱疾病,是一种少见疾病。笔者遇到1例报道如下。女患,4.5岁。因头大、智力差就诊。患儿为第一胎,足月顺产,其父、母体健,非近亲婚配。患儿出生时发育正常,6个月后头生长快,1岁后头增大更明显,3岁时已相当于成人头,但身高、体重正常。查体:面形奇特,表情呆板,反应差,不能正确回答问话,智力相当2岁儿童。头围59.5cm,头发发育好。眼距增大,视力正常,鞍鼻,鼻孔大,唇厚,口微张,舌厚,不时下意识伸到
Mucopolysaccharidosis, a genetic disorder of metabolic disorders, is a rare disease. I encountered one case reported below. Female suffering, 4.5 years old. Due to big head, poor intelligence treatment. Children for the first child, full-term delivery, the father, maternal health, non-relatives of marriage. Children with normal development at birth, 6 months after the rapid growth of head, increased after the first 1-year-old more obvious, at 3 years of age has been equivalent to adult head, but height and weight normal. Physical examination: peculiar face, stiff face, poor response, can not correctly answer the questioning, intelligence is quite 2 years old children. Head circumference 59.5cm, hair is well developed. Eyesight increased, normal vision, saddle nose, nostrils, lip thick, mouth micro-Zhang, tongue thick, subconsciously from time to time