ESPE Abstracts

Background: Mauriac Syndrome (MS) is currently an extremely rare complication in type 1 diabetes mellitus (DM1). It is characterized by the triad: poor metabolic control, dwarfism and hepatomegaly. Other findings are elevated transaminases, dyslipidemia, cushingoid features and delayed puberty.

Case: Male patient with DM1 since 5 years age. Coinciding with a family breakdown, from the age of 7 his metabolic control deteriorated significantly (HBA1c ~12%/recurrent ketoacidosis). At 12 years of age, he persisted with poor metabolic leading frequent hospitalizations for ketoacidosis and a progressive increase in insulin doses up to 2.7U/kg/day with MDI therapy. Despite this, poor metabolic control and multiple hospitalizations persist. From the age of 8 years there is a lack of growth and weight together with hepatomegaly with increased transaminases. At 15 years, his height was 130.3 cm (-4.9SD), BMI 16.2 kg/m² (-1.8SD); he had protruding abdomen with a smooth, firm consistency and not painful hepatomegaly of 5-6 cm under the costal margin, testes 2 cc, no pubic hair, thin limbs and hypotrophy of muscle masses. Laboratory: total cholesterol 253 mg/dl, HDL 92 mg/dl, LDL 134 mg/dl, triglycerides 134 mg/dl, AST 369 U/L, ALT 369 U/L with normal liver function. Normal blood count, celiac study, thyroid function and creatinine. Hepatitis A, B and C virus infection was ruled out. Basal GH 2.89 ng/ml (reference value (VR) < 1), clonidine-stimulated GH 10,7 ng/ml, IGF-1 346 ng/ml (VR 358 – 870), IGFBP-3 5246 ng/ml (VR 2590 – 7280). Bone age with 2-year delay. Treatment with an insulin pump is started. Improved metabolic control and normalization of liver tests were obtained. Unfortunately, patient abandons controls. A follow-up carried out at 21 years of age he remains using an insulin pump with poor adherence, HBA1c ~11% and new hospitalizations for ketoacidosis. He reached a final height of 156.9cm (-2.9SD; target height -0.9SD).

Conclusions: MS is the consequence of serious metabolic compromise in poorly controlled DM1 patients. Despite the advances in therapies, MS can still appear. Differential diagnosis such as viral hepatitis or glycogenosis should be considered. Growth impairment due to resistance to the action of GH, and a global and hepatic pro-inflammatory environment could be reversed with appropriate therapy, but it can be definitive without it. Despite the large percentage of adolescents with poor metabolic control MS is rare. This leads to suppose the existence of certain genes that predispose to this pathology.