Clinical, biochemical and radiological findings in children with glycogen storage disease.

Abstract

Objective: To determine the clinical, biochemical and radiological findings in children with glycogen storage disease (GSD) presenting to National Institute of Child Health, Karachi, Pakistan. Study Design: Cross-sectional study. Setting: Department of Hepatology and Gastroenterology, National Institute of Child Health, Karachi. Period: January 2021 to June 2022. Material & Methods: A total of 40 children of either gender (male or female) aged ≤ 13 years diagnosed with GSD (confirmed on liver biopsy) were included. Clinical, biochemical and radiological findings were included. Data analysis was performed using SPSS Ver. 26.0. Results: In a total of 40 children with GSD, 22 (55.0) were boys. There were 24 (60.0%) children who had age between 1 to 3 years. The mean age, weight and height were 2.8±1.7 years, 10.3±3.5 kg and 79.9±11.6 cm respectively. Abdominal distension and hepatomegaly were the most common presentation reported in 40 (100%) children each while 37 (92.5%) children reported increased appetite. Biochemical investigations revealed that ALT 2 time above upper limit normal, hypertriglyceridemia and hyperuricemia were noted among 37 (92.5%), 32 (80.0%) and 16 (40.0%) children respectively. Liver biopsy had revealed GSD among all cases. Conclusion: Abdominal distension, hepatomegaly and increased appetite were the most common clinical presentation among children with GSD. Biochemical investigations revealed that ALT 2 time above upper limit normal, hypertriglyceridemia and hyperuricemia were the most frequent among children with GSD.