儿童糖原贮积症Ⅳ型1例报告

Acase report on glycogenstorage disease type Ⅳ in children

报告1例女性1岁11月患儿,因“发热、咳嗽、腹胀5d,发现肝脾大1d”于2022年2月14日入院治疗。患儿腹部明显膨隆,见腹壁静脉曲张,肝脾肿大。经肝脏病理检查及基因检测,诊断为糖原贮积症Ⅳ型。患儿行肝脏移植术后随访1年余,定期复查相关指标无明显异常,患儿饮食、生长发育正常。

A 1-month-old female patient was admitted to hospital on February 14,2022,due to"fever,cough,and abdominal distension for 5 days,and found that the liver and spleen size was 1d".The abdomen of the child was obviously distended,with varicose veins in the abdominal wall and hepatosplenomegaly.She was diagnosed with glycogen storage disease typeⅣby liver pathology and genetic examination.The patient was followed up for more than 1 year after liver transplantation,and there were no obvious abnormalities in relevant indicators during regular review.The diet,growth and development of the child were normal.