Mauriac Syndrome: A Rare Condition With Cushingoid Feature and Hepatomegaly in Poorly Controlled Diabetes Mellitus Type 1

TL;DR

Mauriac syndrome is a rare, reversible condition in poorly controlled type 1 diabetes, marked by liver enlargement and Cushingoid features, which improves with proper blood sugar management.

Contribution

The paper presents a clinical case demonstrating the reversibility of Mauriac syndrome through strict glycemic control in a prepubertal type 1 diabetes patient.

Findings

The patient showed normalization of liver enzymes and improved fat distribution after treatment.

Strict glycemic control reversed clinical and laboratory abnormalities associated with Mauriac syndrome.

The case highlights the importance of early diagnosis and management to prevent long-term complications.

Abstract

Hepatic glycogenosis (HG) is a rare complication of poorly controlled type 1 diabetes mellitus (T1DM), in which glycogen accumulates in the hepatocytes. It can be caused by excessive insulin doses or recurrent ketoacidosis episodes. Mauriac’s syndrome is a rare disease that includes short stature, growth maturation delay, dyslipidemia, moon facies, protuberant abdomen, and hepatomegaly with transaminase elevation. It is clinically classified into two varieties based on the presence or absence of obesity and cushingoid appearance. Clinical, laboratory, and histological abnormalities are reversible with appropriate glycemic control. Our case is a 17-year-old male who had been a known case of T1DM for 15 years and presented with complaints of blurring of vision, facial puffiness, frequent urination, breathlessness, and generalized abdominal pain. Patient examination revealed cushingoid facies, abdominal distension due to hepatomegaly, and stunted growth with an altered lipid profile. He showed a very high sugar reading and was admitted for diabetic ketoacidosis. He was explained the proper diet and insulin administration technique and discharged with proper insulin dosages. On management, he showed normalization of liver enzymes and improved fat distribution with normal liver size. Thus, Mauriac syndrome is a reversible glycogen storage disease that can be completely managed with strict and continuous glycemic control in prepubertal T1DM patients.

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