Mauriac Syndrome: A Rare Complication of Poorly Controlled Diabetes Mellitus

Abstract

Background: Mauriac syndrome is a rare syndrome associated with type 1 diabetes (T1DM) in children, it's characterized by poor glycemic control, hepatomegaly, growth disorders with cushing features and puberty delay. The incidence of this syndrome has decreased significantly with introduction of long-acting insulin and better glycemic control. Case presentation: A 14 years old male boy, was diagnosed with T1DM at age 3. He was irregular with the treatment, with a history of 4 ketoacidosis events, no HbA1C control with irregular use of NPH and regular insulin. At physical examination height 120.5 cm (less than 3rd percentile) weight 26.3 kg (less than 3rd percentile) and body mass index of 18.1. Tanner scale P1, testicular volume less than 4 ml bilaterally. He had abdominal fat deposition, a liver was palpable clinically 3 cm below costal margin, malar erythema, extremities with diffuse atrophy and prayer sign. Initial laboratory tests shows HbA1C 12.8% C- Peptide ≤0.1 ng/mL, liver function test, renal function test were normal. Bone age was retarded at 11 years old. , IGF-1: 92.7 ng/mL, IGFBP3: 3.19 mg/mL, LH 0.169 mIU/mL, FSH 1.4 mIU/mL, Testosterone <20 ng/dL. Hepatic liver ultrasound with increased echogenicity, with extremity polyneuropathy and without ocular affection. Actual insulin doses 1.3 UI/kg/day. Conclusion: Pierre Mauriac in 1930, described growth failure and pubertal delay with hepatomegaly and abdominal distension in children with T1DM, who were treated with shortacting insulin. Nowadays, the introduction of glycemic self-monitoring, new insulins and intensified treatment, the incidence of this syndrome has reduced rapidly and in the current era this is a very rare syndrome. Equal incidence is reported in males and females, with most of the cases occurring during adolescence. The pathogenesis of growth retardation is not clear but is thought to be multifactorial. Inadequate glucose to the tissues, decreased Insulinlike growth factor-1 and GH levels, hypercortisolism, resistant or defective hormone receptor action contribute to stunted growth and delay in puberty. The periods of supraphysiological levels of insulin is associated with hepatomegaly. The cause of hepatomegaly is thought to be due to the deposition of glycogen in the liver, and similar subcutaneous deposition gives rise to the round moon like facies. Despite of being a rare disease, it's important having in mind this clinical features in poorly controlled T1D1 diabetic patients, this syndrome can be resolved with appropriate insulin dose, good glycemic control, and a multidisciplinary approach.