Mauriac syndrome

Type 1 diabetes mellitus (T1DM) has a significant effect on the growth of children. The disease has a negative effect on growth when considered in relation to the time period and metabolic control. Studies in this review have suggested debilitated growth in children with T1DM and have a few anomalies in the growth hormone (GH)-insulin-like growth factor-1 (IGF-1) axis when compared to fit children. Some studies show that children with T1DM were taller before the onset of the disease and during early diagnosis...

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The liver is a major store of glycogen and is essential in maintaining systemic glucose homeostasis. In healthy individuals, glycogen synthesis and breakdown in the liver are tightly regulated. Abnormal glycogen metabolism results in prominent pathological changes in the liver, often manifesting as hepatic glycogenosis or glycogen inclusions. This can occur in genetic glycogen storage disease or acquired conditions with insulin dysregulation such as diabetes mellitus and non-alcoholic fatty liver disease or medication effects...

The Pierre Mauriac syndrome described in the year 1930, is characterized by growth failure, cushingoid appearance, hepatomegaly and hypertransaminasemia, in a patient with chronic uncontrolled DM1. The most common age of presentation is usually in adolescence, although cases have been described in both children and adults. The hallmark of this syndrome is extreme liver enlargement from massive acucumulation of glycogen. The diagnosis of hepatopathy requires high clinical suspicion and the presence of glycogen accumulation must be corroborated with a liver biopsy...

Peroxisome Biogenesis Disorders (PBD) and Zellweger syndrome spectrum disorders (ZSD) are rare genetic multisystem disorders that include hearing impairment and are associated with defects in peroxisome assembly, function, or both. Mutations in 13 peroxin ( PEX ) genes have been found to cause PBD-ZSD with ~70% of patients harboring mutations in PEX1 . Limited research has focused on the impact of peroxisomal disorders on auditory function. As sensory hair cells are particularly vulnerable to metabolic changes, we hypothesize that mutations in PEX1 lead to oxidative stress affecting hair cells of the inner ear, subsequently resulting in hair cell degeneration and hearing loss...

BACKGROUND: We describe a case of Mauriac syndrome, which is a rare complication of poorly controlled type I diabetes that combines glycogenosis, hepatomegaly, growth retardation with a Cushingoid appearance that is most often present in children but also in young adults. Here we also describe another finding with this syndrome, which is hyperlactatemia. CASE PRESENTATION: The case is of a 16-year-old female of North African ethnicity with history of poorly controlled type I diabetes who was brought to the emergency department for dyspnea and tachycardia, treated initially for diabetic ketoacidosis...

BACKGROUND: It has been studied that fluctuating glucose levels may superimpose glycated hemoglobin in determining the risk for diabetes mellitus (DM) complications. While non-alcoholic steatohepatitis (NASH) remains a predominant cause of elevated transaminases in Type 2 DM due to a strong underplay of metabolic syndrome, Type 1 DM can contrastingly affect the liver in a direct, benign, and reversible manner, causing Glycogen hepatopathy (GH) - with a good prognosis. CASE SUMMARY: A 50-year-old female with history of poorly controlled type 1 DM, status post cholecystectomy several years ago, and obesity presented with nausea, vomiting, and abdominal pain...

PURPOSE OF REVIEW: The purpose of this review is to summarize the current literature on the subject of linear growth in children and adolescents with or at risk for type 1 diabetes mellitus (T1DM). RECENT FINDINGS: Poor glycemic control in T1DM is associated with growth hormone resistance, and improving glycemic control can improve linear growth. Newer reports suggest that the increasingly popular very low carbohydrate diets, may reduce linear growth velocity. SUMMARY: Linear growth during childhood is a complex process regulated influenced by genetic, hormonal, nutritional and environmental factors...

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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...

Glycogenic hepatopathy is a rare but reversible condition that includes acute liver dysfunction and hepatomegaly. This occurs due to excessive glycogen accumulation in the hepatocytes. It can occur in patients with poorly controlled type 1 diabetes mellitus. We are reporting a case of a 17-year-old girl who developed liver dysfunction following admission with diabetic ketoacidosis. Ultrasound abdomen confirmed hepatomegaly. However, with improvement in her metabolic control, her liver enzymes and hepatomegaly improved...

Mauriac syndrome is an uncommon clinical condition arising in the setting of poorly controlled type 1 diabetes mellitus. Clinical features include hepatomegaly and liver abnormalities indistinguishable from nonalcoholic fatty liver disease. Early diagnosis and management are essential, as Mauriac syndrome is reversible.

Mauriac syndrome is a very rare syndrome that occurs in poorly controlled type 1 diabetes mellitus with diabetic complications. Its cardinal features include delayed growth and puberty, hepatomegaly, and moon faces. These features were attributed mainly to insulin deficiency and sub-optimal diabetic management. Its incidence is decreasing due to the newer insulin formulation and intensive blood glucose control. Early recognition and management of this syndrome may improve the outcome of these patients. Recently, there are increasing reports of this syndrome...

Mauriac syndrome is a rare and underdiagnosed complication of type 1 diabetes mellitus (T1DM). It is characterized by growth retardation, delayed puberty, Cushingoid features, hepatomegaly, and increased transaminase levels. The term glycogenic hepatopathy has been used to describe patients with poorly controlled T1DM and glycogen overload in the hepatocytes but without all the features of Mauriac syndrome. Although rare, glycogenic hepatopathy is reported to be the main cause of hepatomegaly in young patients with T1DM...

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.

Glycogenic hepatopathy (GH), defined histologically by hepatocytic glycogen accumulation without fatty change or fibrosis, is a benign reversible condition. It presents clinically as hepatomegaly with elevated liver enzymes in young diabetic (type 1) patients with poor glycemic control. We report a case of a 20-year-old female with a history of poorly controlled type 1 diabetes mellitus (T1DM) and prior pancreatitis who presented with sharp epigastric pain and hepatomegaly. She was found to have diabetic ketoacidosis with elevated lipase and amylase...

BACKGROUND & AIMS: Glycogenic hepatopathy (GH) in type 1 diabetes-mellitus (T1DM) is characterized by hepatomegaly and perturbations of liver chemistries (LC) that have not been well studied. Furthermore, misdiagnosis with other hepatic complications of T1DM, such as nonalcoholic fatty liver disease, has been described. We perform a systematic review of biopsy-proven GH reports in T1DM patients to identify LC patterns. METHODS: A systematic review identified reports of biopsy-proven GH in patients with T1DM...

We present a case of Mauriac syndrome in a young woman with poorly controlled type 1 diabetes mellitus. Liver complications are well known in the context of type 2 diabetes mellitus, it is associated metabolic complications and with the non-alcoholic fatty liver disease spectrum. This case brings to light a less well-known liver complication associated with type 1 diabetes mellitus.

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...

BACKGROUND: Mauriac syndrome is a rare consequence of poorly controlled insulin-dependent diabetes, characterized by hepatomegaly, growth failure, delayed onset of puberty, and cushingoid features. Case reports of patients with Mauriac syndrome are found infrequently in the literature given historic improvements in diabetes management due to readily available insulin therapy. METHODS: We describe a case of a 14-year-old girl who presented with acute onset abdominal pain, distention, and orthopnea...