Glycogen storage disease Ia complicated with multiple hepatic adenomas: a case report and literature review

Abstract Background: Glycogen storage diseases (GSDs) are a rare group of autosomal recessive genetic disease. The pathogenesis of GSD is derangement of carbohydrate metabolism and results in abundant glycogen accumulation within tissues. Clinically, patients suffering from GSD are characterized with growth retardation, puberty delay, hyperuricemia, hypoglycemia and hepatomegaly, occasionally, complicated with hepatic adenoma.Case presentation: A 29-year-old man was admitted to our hospital with enlarged liver masses after a 2-year-long follow-up. Physical examinations showed he was 160cm in height, 50kg in weight and many tophi in his joints. Laboratory examinations showed hypoglycemia, elevated uric acid and free fatty acids, but negative tumor markers. After reviewing his clinical history, GSD Ia was suspected for the underlying disease and complicated with multiple hepatocellular neoplasm. The precise diagnosis was made finally by combining pathology examination, biochemical assays and whole exome sequencing (WES).Conclusions: The present case would be conductive for general pathologists to recognize the clinicopathological features of GSD and prompt diagnosis. On patients’ side, it will be vital for their timely follow-up and management.