Hepatic Glycogenosis: About a Series of 15 Cases

Hepatic glycogenosis are a group of inherited disorders characterized by enzyme defects that affect the glycogen synthesis and degradation cycle.

Objective: To describe the characteristics of patients with hepatic glycogenosis, the presentation types and to highlight the diagnostic and therapeutic difficulties in our population.

Methods: The study group consisted of 15 patients admitted in hospital between January 2012 and December 2018.

Results: 11 boys and 4 girls. The sex ratio was 2.75. Ten patients had type I glycogenosis, four patients had type III and one had type XI. The consanguinity of the parents was found in 11 patients. The referral reason was growth failure in 11 patients and hypoglycemia in 7 cases. Hepatomegaly was present in 13 cases. 5 patients had a facial dysmorphism. Biologically, hepatic cytolysis was present in 10 patients and hypertriglyceridemia in 7. Liver function was normal in all patients. Hepatic biopsy was performed in all patients and showed histological signs of glycogenosis. Therapeutic management was based on dietary measures. All patients are alive. 3 cases have progressed to cirrhosis.

Conclusion: Hepatic glycogenosis have heterogeneous clinical manifestation. It has to be kept in mind whenever important hepatomegaly and/or hypoglycemia are present.