Mauriac Syndrome in a Nigerian child with type 1 diabetes mellitus: a case report

Ezeani I.U ; Oyenusi E.E (2021-12)

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A 14-year-old boy with Type 1 Diabetes mellitus (diagnosed at eight yearsof age) presented with complaints of fever, weight loss, growth failure, pubertal delay, abdominal swelling and discomfort.He was on Premixed insulin (70/30) with inadequate follow-up and poor diabetic control.Examination revealed cachexia, generalised lymphadenopathy, a protuberant abdomen and hepatosplenomegaly. Anthropometry showed a bodyweight of 19.6kg, a height of 116cm and a BMI of 14.1kg/m2, all markedly below the 3rdcentile. He had no secondary sexualcharacteristics: axillary hair stage 1, pubic hair stage 1, penile length of 4.9cm and prepubertal testicular volumes of 3mls bilaterally. At presentation, his random blood glucose was 400mg/dl, and glycosylated haemoglobin was 11.6%. Screening for tuberculosis, human immunodeficiency virus, hepatitis and lymphoproliferative disorders were negative. Other blood investigation findings included leucocytosis, erythrocyte sedimentation rate of 30mm/hr, normal liver function tests, normal serum electrolytes, urea and creatinine. His haemoglobin genotype was AS. Chest radiograph showed features of bronchopneumonia. A presumptive diagnosis of Mauriac Syndrome was made. With the optimisation of glycaemic control, he improved clinically with a weight gain of 5.7kg over four months and resolution of hepatosplenomegaly.Keywords: Abdominalswelling,Cachexia, Growth failure, Hepatomegaly, Insulin, Pubertal delay.Introduction Mauriac syndrome (MS) is characterised by growth failure, delayed puberty, cushingoid features and hepatomegaly, usually associated with poor control of Type 1 Diabetes mellitus (T1DM) in children and adolescents.[1-4] The pathophysiology of MS is not entirely understood, but some mechanisms for glycogenosis have been suggested. In prolonged hyperglycaemia, glucose passively enters the hepatocytes by the insulin-independent membrane glucose transporter GLUT2mechanismand is rapidly phosphorylated. Subsequent insulin treatment promotes the polymerisation of glucose-6-phosphate to glycogen by glycogen-synthase, driving a large amount of glycogen synthesis in the presence of trapped high cytoplasmic glucose concentrations. [1,2,5-7]Some authors have suggested that genetic factors may be involved in the predisposition to MS, which may explain why some patients with poorly controlled T1DM develop the condition while others do not.[1,8]