Mauriac Syndrome: A Rare Cause of Hepatomegaly

Uncontrolled type 1 diabetes mellitus (T1DM) can lead to complications, including hepatic glycogenic overload, also known as Mauriac syndrome. This syndrome, initially described in children with T1DM, is characterized by excessive hepatic glycogen accumulation due to fluctuating hyperglycemia and high insulin doses. It is often underdiagnosed due to clinical overlap with metabolic dysfunction-associated steatotic liver disease (MASLD). We report the case of a 15-year-old boy with poorly controlled T1DM and recurrent diabetic ketoacidosis (DKA) who presented with abdominal distension, hepatomegaly, growth retardation, and delayed puberty. Laboratory tests showed elevated transaminases, hyperglycemia, and poor glycemic control, with a negative etiological workup for other liver diseases. Imaging confirmed hepatomegaly, and histological analysis via liver biopsy demonstrated glycogenic hepatopathy with intracytoplasmic glycogen deposits. Management was based on stringent glycemic control, which led to a marked improvement in liver tests and hepatomegaly. This case underscores the importance of considering Mauriac syndrome in T1DM patients presenting with hepatomegaly and abnormal liver enzymes.