肝糖元累积病3例

• 作 者: 章毅英 陈肖肖
• 机 构: 浙江医科大学附属儿童医院,浙江医科大学附属儿童医院,
• 出 处: 浙江医学
• 发表日期: 1991年04期
• 关键词: 腹部进行性膨隆 肝糖元 反复鼻衄 代谢性疾病 肝掌 蜘蛛痣 稀糊状 大便 形体 细胞内酶

肝糖元累积病是儿科临床较少见的代谢性疾病,其发病率约为1/40000,本院收治3例,报道于下.例1:女,10岁.因腹部进行性膨隆10年伴反复鼻衄3年入院.患儿自幼反复腹泻,大便每天3～4次,稀糊状,6月龄时体检发现肝脏肿大,以后腹部进行性膨隆,且生长发育明显落后于同龄儿,近3年来反复鼻衄不明原因.无昏厥史,家族中无类似病史者.体检:神清,形体矮小,体重18kg,身高105cm,无肝掌、蜘蛛痣,无黄疸,心肺听诊正

Liver glycogen accumulation disease is a less common pediatric clinical metabolic disease, the incidence of about 1/40000, 3 cases admitted to our hospital, reported in the next .Example 1: Female, 10 years old. Due to bulging abdomen for 10 years Accompanied by repeated epistaxis for 3 years admitted to hospital with repeated diarrhea since childhood, stool 3 to 4 times a day, thin paste, 6 months of age found liver enlargement examination, after the abdomen bulging, and growth and development lagged behind the same age children No history of syncope, no similar history in the family Physical examination: Shen Qing, body short, weight 18kg, height 105cm, no liver palms, spider nevus, no jaundice, cardiopulmonary auscultation