ESPE Abstracts

Introduction: Mauriac syndrome is a rare condition affecting poorly controlled type 1 diabetics. It results from excessive accumulation of glycogen in the liver following chronic hyperglycaemia. It is manifested by delayed growth and pubertal development, as well as hepatomegaly and hepatic cytolysis. Early detection can improve the prognosis and prevent progression to serious complications. Our aimis to report the diagnostic and evolutionary features of four cases of Mauriac syndrome in young diabetic adolescents.

Observations: We report four cases of Mauriac syndrome in young former type 1 diabetics aged between 14 and 15 years and 6 months (diabetes duration 8-12 years), three boys and one girl, referred to the paediatric diabetes consultation for investigation of growth retardation with abdominal distension. All four cases had delayed growth and puberty, a chubby face, abdominal distension with spindly limbs, and large hepatomegaly with hepatic cytolysis. The low socio-economic and intellectual status of the parents and difficulties in accessing healthcare were reported in the three boys, while irregular diabetes monitoring and poor glycaemic control over many years were observed in all four cases (HbA1C between 10-12%). Moderate hepatic cytolysis was observed in all patients, with a negative infectious work-up (viral serologies) and immunological work-up (autoimmune hepatitis antibodies). Two cases progressed well, with acceptable glycaemic control, clear regression of PMH and normalisation of liver function tests, while two cases were lost to follow-up.

Discussion: According to our four observations, Mauriac syndrome is more common in males, and the difficulty in gaining regular access to healthcare due to low socioeconomic status was the major factor in poor control of diabetes. Delayed growth and puberty, a pale face and PMH with hepatic cytolysis were constant features. The prognosis for adolescents lost to follow-up appears poor.

Conclusion: Although Mauriac syndrome is a rare entity in young diabetics, early detection seems essential to improve growth prognosis and prevent complications. Non-adherence to treatment and an unfavourable social environment are predictors of a poor prognosis.