Mauriac syndrome: a rare cause of massive hepatomegaly

Mauriac syndrome or glycogen hepatopathy (GH) is an uncommon complication of poorly controlled type 1 diabetes mellitus commonly occurring in adolescents. It has become even less common after the emergence of advances on diabetes treatment, but still exists. It manifests as growth failure, hepatomegaly, elevated liver enzymes, and accumulation of glycogen in hepatocytes related to poorly controlled diabetes and a glucose trap in the liver. GH has got good prognosis and fast resolution after adequate glycemic control, with no progression to end-stage liver disease. We report a 10-year-old boy with poorly controlled type I diabetes mellitus (on pre-mix insulin), hepatomegaly, and extremely high levels of liver transaminases. He underwent a liver biopsy elsewhere which showed glycogen deposits. He was referred to our institution for confirmation of diagnosis of glycogen storage disorder. Clinical examination revealed short stature, moon facies, and protuberant abdomen with hepatomegaly of 8 cm below the right costal margin. After exclusion of other causes of hepatitis, we controlled his sugars using basal bolus insulin regimen. Clinical exome sequencing revealed no abnormal mutations in the enzymes linked to glycogen metabolism. In an about 8 weeks, his transaminases normalized and hepatomegaly regressed.