Mauriac Syndrome in a Nigerian child with Type 1 Diabetes Mellitus: A Case Report

A 14-year-old boy with Type 1 Diabetes mellitus (diagnosed at eight years of 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 3rd centile. He had no secondary sexual characteristics: 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.

Re-emergence of a rare syndrome: Mauriac syndrome

Mauriac syndrome (MS) is one of the rare complications of poorly controlled Type 1 Diabetes Mellitus (T1DM). It is characterized by poor glycemic control, short stature hepatomegaly, Cushingoid features and delayed puberty [1]. Since the introduction and easy availability of longer acting insulin and insulin analogues, cases of Mauriac syndrome are hardly reported now [2]. This syndrome is more frequently encountered in children and adolescents with poor glycemic control and increases susceptibility of micro vascular complications of Diabetes like diabetic retinopathy and diabetic nephropathy. It is the most common cause of hepatic dysfunction in children and adolescents with Type 1 diabetes mellitus [3]. A classical case of Mauriac syndrome (MS) in an adolescent girl of uncontrolled Type 1 Diabetes Mellitus is being presented.

Elevated lactate in Mauriac syndrome: still a mystery

Background The Mauriac syndrome was described in 1930 as a peculiar combination of poorly controlled diabetes mellitus type 1, stunted growth and glycogenic hepatopathy. More recently, lactic acidosis was recognized as an additional feature, often induced by insulin treatment. Case presentation A 17-year old girl known for diabetes type 1A and Mauriac syndrome was admitted to the emergency room with hyperglycemia of > 41 mmol/l without ketoacidosis. Under a standard insulin regimen, hyperglycemia was rapidly corrected but marked hyperlactatemia occurred. Conclusions The mechanism of impaired glucose utilization and lactate elevation independent of ketoacidosis in Mauriac syndrome is intriguing. The rarity of Mauriac syndrome and its resemblance to glycogen storage diseases suggest the presence of a specific metabolic or genetic predisposition that remains to be identified.

Type 1 diabetes mellitus in chronic insulin deficiency conditions

Mauriac syndrome is a severe complication of type 1 diabetes mellitus, manifested by growth retardation, impaired formation of secondary sexual characteristics, lack of libido, and hepatomegaly. Currently, the presented syndrome is quite rare. This is more related to the emergence of intensive insulin therapy, which keeps the level of daily glycemia within the tolerance of type 1 for diabetes mellitus. The article describes a clinical case of the development of Mauriac syndrome in a 21-year-old patient with decompensated diabetes mellitus and multiple complications. The patient was deprived of proper control over the condition of daily glycemia and full-fledged insulin replacement therapy for a long because of unfavorable social and material conditions in the family, which contributed to the development of chronic insulin insufficiency and complications.

Mauriac syndrome: A failure of parent or physician

Mauriac syndrome is rare; we share our experience of nine patients who presented at a young age with malnutrition, short stature, abdominal distention and deranged liver function.

Reversible severe glycogenic hepatopathy in type 1 diabetes

Summary Case presentation We report a case of severe glycogenic hepatopathy in a 17-year-old boy with poorly controlled type 1 diabetes. On presentation, major findings included unexplained pronounced hepatomegaly and increased liver enzymes, ferritin, and triglycerides. Histology and electron microscopy evaluation showed severe glycogen storage, steatosis, and signs of fibrosis, resembling the histomorphological findings of Mauriac syndrome. After information about the nature of the disease and intensification of insulin therapy with insulin pump, liver enzymes, ferritin, and triglycerides normalized within 1 month. Conclusion Glycogenic hepatopathy is a rare but important potential complication in poorly controlled juvenile diabetic patients. With improved metabolic control, it is fully reversible.