糖原累积病Ⅰ型1例

TypeⅠglycogenosis: a case report

报告1例糖原累积病Ⅰ型。患者男,35岁。身高142cm,体重40kg,肝脾大,臀部、四肢、双手足有浅红及浅黄色丘疹、结节,约100多枚,米粒至核桃大,质硬,无压痛,无破溃。病史5年余,皮损逐渐增多。皮损组织病理检查:真皮内有尿酸盐结晶。血液生化检查示血糖低、血脂高、血尿酸高。腹部B超检查示肝脏脂肪样变,下肢X线检查示胫、腓骨骨质疏松。

A 35-year-old man presented with type I glycogenosis. He was 142 cm in height and his weight was 40 kg. He had excessive papules and nodules in the extremities for 5 years. The lesions were hard and their sizes varied from 1 mm × 1 mm to 20 mm × 20 mm, with no ulceration. Histopathological examination showed urate crystal deposited in dermis. Hypoglycemia, hyperlipidemia and hyperuricemia were confirmed by biochemical test. B-ultrasound showed a fatty degeneration of liver. X-ray examination for his tibias and fibulas indicated an osteoporosis.