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本文通过1例Ⅰ型糖原储积病的肝脏病变,观察肝细胞核内和胞浆内糖原颗粒的分布。 一、病史、材料和方法 患儿,男、8岁,第一胎,足月顺产。出生后4个月发现肝肿大肋下4cm,无疼痛和黄疸。随年龄增长,肝脏进行性肿大已7年。发育迟缓,体型矮小,两岁才走路,7岁才会爬阶梯,智力低于同龄儿童。父母为表兄妹婚配。 体检:身长92cm(相当3岁左右儿童),体重15kg,腹部膨隆,腹壁静脉显露、曲张,肝肿大肋下12cm,无压痛。脾肿大肋下3cm。
This article through a case of type I glycogen storage disease liver lesions, observed intranuclear and intracytoplasmic glycogen granules distribution. First, history, materials and methods Children, male, 8 years old, the first child, full-term delivery. After 4 months of birth, hepatomegaly was found to be 4 cm below the ribs without pain and jaundice. With age, the liver has been progressively enlarged for 7 years. Developmental delay, short stature, only two years old to walk, 7-year-old will climb the ladder, the intelligence is lower than the same age children. Parents are cousins and sisters. Physical examination: body length 92cm (approximately 3 years old children), weight 15kg, abdominal distension, abdominal vein exposure, varicose, hepatomegaly ribs 12cm, no tenderness. Splenomegaly 3cm under the ribs.