• Hazrat Bilal The Children's Hospital & The institute of Child Health Lahore
  • Huma Arshad Cheema The Children's Hospital & The institute of Child Health Lahore
  • Zafar Fayyaz The Children's Hospital & The institute of Child Health Lahore
  • Anjum Saeed The Children's Hospital & The institute of Child Health Lahore
  • Syeda Sara Batool Hamdani The Children's Hospital & The institute of Child Health Lahore


Background: Objectives of the study were to determine the clinical spectrum of presentation and various modalities helpful in the diagnosis of liver glycogenosis short of genetic analysis. Methods: All patients under 18 years of age presenting to Paediatric Gastroenterology unit of Children's Hospital, Lahore with suspicion of hepatic glycogen storage disease (GSD) were enrolled over a period of 18 months. Demographic profile and various factors under observation were recorded. Collected data was analysed using SPSS version 22. Results: Among 89 enrolled patients F:M ratio was (1.28:1). The most common GSD was type I (71, 79.7%) followed by III (13, 14.6%), II (3, 3.3%), IV (1, 1.1%) and IX (1, 1.1%). The Abdominal distension was the most common presentation in 89.5% followed by hepatomegaly in 86.5%, diarrhoea in 41.6%, doll’s like appearance in 31.5% and vomiting, acidotic breathing with convulsions in about 20% of children in GSD I. Hepatomegaly (100%), failure to thrive (85%), developmental delay (69%) and splenomegaly (92.3%) were leading presentation in GSD III. Elevated triglycerides (77.5%) followed by transaminesemia (56%), hypercholesterolemia (63%), hyperuricemia (32%) and hypoglycaemia (14%) were significant biochemical findings in GSD I. Consistently raised liver enzymes (92%) and creatinine phosphokinase (100%) in addition to hypertriglyceridemia (69%) were seen in GSD III. The presence of enlarged hepatocytes with clearing of cells favour GSD1 showed in 79% of children while fibrosis and steatosis usually seen in GSD-III (14.6%). Conclusion: Hepatic glycogen storage diseases are serious health issues and should be excluded in any patient who present with hepatomegaly, short stature and hyperlipidaemia to decrease the disease mortality and morbidity.Keywords: glycogen storage disease; children; presentation

Author Biographies

Hazrat Bilal, The Children's Hospital & The institute of Child Health Lahore

FellowDepartment of Paediatric Gastroenterology & Hepatology 

Huma Arshad Cheema, The Children's Hospital & The institute of Child Health Lahore

ProfessorDepartment of Paediatric Gastroenterology & Hepatology

Zafar Fayyaz, The Children's Hospital & The institute of Child Health Lahore

Assistant ProfessorDepartment of Paediatric Gastroenterology & Hepatology

Anjum Saeed, The Children's Hospital & The institute of Child Health Lahore

Assocate ProfessorDepartment of Paediatric Gastroenterology & Hepatology

Syeda Sara Batool Hamdani, The Children's Hospital & The institute of Child Health Lahore

Senior RegistrarDepartment of Paediatric Gastroenterology & Hepatology


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