Introduction: Mauriac Syndrome is characterized by the presence of hepatomegaly, growth retardation, delayed puberty and cushingoid features. This entity is traditionally diagnosed during the work-up of hepatic enzymes alterations in children/young adults with type 1 diabetes mellitus (T1DM) with poor glycaemic control. However, the impact of metabolic control in the normalization of hepatic analytic profile is not clarified.
Methods and design: Retrospective study of five patients with T1DM with hepatic histopathology indicative of Mauriac Syndrome.
Results: The mean age of the patients at the diagnosis was 21.2±5.07 years-old, but 4 of them (80%) already had hepatic enzymes alterations on blood tests performed 1 year before. All the patients had long diagnosed diabetes (16.4±5.60 years), a poor glycaemic control (HbA1c 12.8±1.99%) and the presence of diabetes-related microvascular disease. Patients were referred to biopsy due to significant alterations on the enzymes of hepatic cytolysis: AST 339±368 U/L (reference value-RV: 1037) and ALT 243±194 U/L (RV: 1037). Enzymes of hepatic cholestasis were discreetly elevated and bilirubins were normal. All patients had hepatomegaly (21.6±2.97 cm in the midclavicular line) without splenomegaly. The most frequent histopathological features were cytoplasmatic clarification and ballooning and nuclear glycogenization. One patient had short stature criteria (below 3rd percentile on the WHO growth curves) and three others had a stature that was inferior to the 10th percentile for their age. Two of the patients had cushingoid features. After the diagnosis insulin therapy was intensified and therapy education was reinforced. One year after the diagnosis and the application of these measures patients presented with a mean HbA1C reduction of 2.72±2.40% and the hepatic blood parameters normalized in all five patients.
Conclusions: Mauriac Syndrome is rare and not readily diagnosed by most clinicians. The improvement of metabolic control seems to lead to hepatic enzymes normalization in these patients, reinforcing the importance of early intervention.