Mauriac Syndrome in a Child with a Positive Antinuclear Antibody Screen

John F Pohl

doi:10.1155/2009/765318

Abstract

A 17-year-old male with type 1 diabetes mellitus (T1DM) presented to clinic with elevated transaminases and a positive antinuclear antibody (ANA) screen. Due to concern for autoimmune hepatitis, a liver biopsy was performed which revealed Mauriac syndrome. This case report is the second known description of a child with Mauriac syndrome presenting with positive autoimmune markers.

Highlights

Mauriac syndrome is associated with poor control of T1DM and presents as hepatomegaly and elevated transaminases [1]
The patient had a history of type I diabetes mellitus (T1DM) diagnosed since 5 years of age with the patient having multiple hospital admissions for diabetic ketoacidosis secondary to noncompliance with insulin therapy
A subsequent liver biopsy demonstrated normal portal tracts (H&E 100×, Figure 2(a)); hepatocytes demonstrated cytoplasmic clearing secondary to increased intracellular glycogen and microvesicular fat (H&E 200×, Figure 2(b)). This biopsy was consistent with Mauriac syndrome and the importance of improved adherence to insulin therapy was expressed to the patient and his family

Summary

Introduction

Mauriac syndrome is associated with poor control of T1DM and presents as hepatomegaly and elevated transaminases [1]. It is typically associated with growth failure and delayed pubertal maturation, these effects can be reversed with good glycemic control [2]

Case Report

Conclusions

Discussion