All issues > Volume 27(4); 1984

Case Report

J Korean Pediatr Soc. 1984;27(4):401-406. Published online April 30, 1984.

A Case of Glycogenosis I.

Se Yoon Eun, Sung Hwan Kim, Sang Il Rhee, Sang Woo Kim, Hye Je Cho, In Ki Park

¹Department of Pediatrics, In-Je Medical College, Seoul, Korea
²Department of Pathology, In-Je Medical College, Seoul Korea

Abstract

We experienced a case of Glycogenosis I in eleven-year-old boy. Clinical features were growth retardation, general weakness, abdominal distension due to hepatomegaly. His bone age was retarded, and huge hepatomegaly and both renal hypertropy was seen in CAT. Latoratory findings revealed epinephrine resistant hypoglycemia, hyperuricemia, metabolic acidosis with increased anion gap and acetonuria without glycosuria. Light microscopic findings of liver and kidney also revealed characteristic findings. He took the operation of portocaval shunt without any early or late complications. A brief review of glycogenosis I is also given.

Keywords :Glycogenosis I; Hepatomegaly; Growth retardation