Hepatomegaly and type 1 diabetes: a clinical case of Mauriac’s syndrome

Abstract

BackgroundHepatic glycogenosis is characterized by excessive glycogen accumulation in hepatocytes and represents a complication of poor controlled type 1 diabetes. It can be caused by excessive insulin doses or recurrent ketoacidosis episodes. Mauriac’s syndrome is a rare disease, which includes short stature, growth maturation delay, dyslipidemia, moon facies, protuberant abdomen, hepatomegaly with transaminase elevation. It has become even less common after the emergence of advances on diabetes treatment, but still exists. Recent reports described glycogenosis without the full spectrum of Mauriac’s syndrome in both adults and children with brittle diabetes. Clinical, laboratory and histological abnormalities are reversible with appropriate glycemic control.Case presentationWe hereby report a case of 11-year-old male who presented with hepatic glycogenosis mimicking Mauriac’s syndrome. The patient was admitted at our Pediatric Diabetes Clinic for marked hepatomegaly, short stature and for the poor metabolic control. Blood investigations and liver tests excluded most of major causes of hepatopathy. A liver biopsy allowed us to make diagnosis of hepatic glycogenosis. To control hyperglycaemia, initially we titrated daily insulin dosage, and then intravenous insulin treatment was practiced with the consequent normalization of liver enzymes.ConclusionMauriac’s syndrome should be considered in subjects with brittle type 1 diabetes and hepatomegaly.

Glycogenic hepatopathy in children with poorly controlled type 1 diabetes mellitus

“…These render them at a high risk of complications with recurrence of DKA. Some previously reported cases of glycogenic hepatopathy also had similar socioeconomic challenges, which led to poor glycemic control (29).…”

Mauriac Syndrome Still Exists in Poorly Controlled Type 1 Diabetes: A Report of Two Cases and Literature Review

“…The cause of HG is due to alternating periods of hyperglycemia and hyperinsulinemia. Hyperinsulinemia resulting from insulin administration stimulates the synthesis of glycogen from excessive hepatic glucose [ 7 ]. Histological features of HG are similar to glycogen storage disease.…”

“…Histological features of HG are similar to glycogen storage disease. These features include glycogen accumulation and glycogenated nuclei [ 7 ]. Some investigators suggested that a genetic mutation in an enzyme of glycogen metabolism combined with persistent hyperglycemia may be the cause of hepatomegaly in MS [ 8 ].…”

Mauriac syndrome: A failure of parent or physician

“…The disease responds well to adequate control of glycaemia, dietary management and adherence to therapy. 2,3 We describe our experience of this entity at our centre over the last 15 years.…”