We have presented a case report of years male adolescent who had multiple hospital admissions for diabetic ketoacidosis. Mauriac syndrome is a rare complication of poorly controlled t1dm and is still underdiagnosed. His thyroid profile free t3 ft3, free t4 ft4 and thyroid stimulating. With the additional findings of short stature in one case, delayed puberty and a.
These alternate diagnoses of mauriac syndrome may already have been considered by your doctor or may need. Elevated lactate levels in patients with poorly regulated. A rare case of persistent lactic acidosis in the icu. Mauriac syndrome ms is a rare complication of type 1 diabetes mellitus t1dm, characterized by hepatomegaly hepatic glycogenosis, puberty and growth delay, dyslipidemia, transaminase elevation and reduction of insulinlike growth factor1 igf1. Mauriac syndrome ms is a rare complication of type 1 diabetes mellitus dm1, characterized by hepatomegaly hepatic glycogenosis, puberty and growth delay, dyslipidemia, transaminase elevation and reduction of igf1 insulinlike growth factor 1. Since the introduction of new forms of insulin cases of mauriac syndrome are rarely reported. It is typically associated with growth failure and delayed pubertal. Syndromes in resourcechallenged settings encyclopedia browser. Glycogenic hepatopathy is a rare but probably underdiagnosed feature of poorly controlled diabetes, in particular type 1 diabetes.
Free fulltext pdf articles from hundreds of disciplines, all in one place elevated lactate levels in patients with poorly regulated type 1 diabetes and glycogenic hepatopathy. Common presenting features include short stature, growth retardation, moon facies, protuberant abdomen, and proximal muscle wasting. Gh was initially described in by pierre mauriac in a pediatric patient with poorly controlled t1dm brittle dmwho presented with hepatomegaly, cushingoid features, and poor growth and development, a condition known as mauriac syndrome 3045. A mechanistic cause for mauriac syndrome, a syndrome of growth failure and. Mahesh s, karp rj, castells s, quintos jb 2007 mauriac syndrome in a 3yearold boy. Mauriac syndrome a modern reality mauriac syndrome a modern reality elder, c j natarajan, a. Discovery of a genetic metabolic cause for mauriac syndrome.
The mauriac syndrome in florid form is an almost extinct disease. Growth retardation, cushingoid facies, hepatomegaly, osteopenia, sarcopenia of proximal large muscles, periodontitis, and delayed puberty. Mauriac syndrome ms is characterized by development of dwarfism, obesity and hepatomegaly in patients with insulin dependent diabetes mellitus iddm. Mauriacs syndrome definition of mauriacs syndrome by.
Mauriacs syndrome dwarfismhepatomegalyobesityjuvenile diabetes syndrome mauriac syndrome mauriacs syndrome disorder hide descriptions. Mauriac syndrome and early cataract diabetic international. A mechanistic cause for mauriac syndrome, a syndrome of growth failure and delayed puberty associated with massive liver enlargement from glycogen deposition in children with poorly controlled type 1 diabetes, is unknown. Mauriac syndrome is rarely noted complication of type1 diabetic children, which is typically associated with growth failure and delayed pubertal maturation. Mauriac syndrome definition of mauriac syndrome by. Mauriac syndrome, a rare complication in children with type 1 diabetes, occurs after a prolonged period of poor metabolic control and is associated with hepatomegaly, growth failure and cushingoid features. Mauriac syndrome article about mauriac syndrome by the free. Mauriac syndrome is a rare complication of type 1 diabetes characterized by extreme liver. The clinical features consist of growth retardation, hepatomegaly, and cushingoid features. Mauriacs syndrome ms may occur in children with poor controlled type 1 diabetes mellitus dm1 and is associated with growth impairment, puberty delay and hepatomegaly with elevated transaminases. Mauriac syndrome is one of the complications of poorly controlled diabetes mellitus type 1.
Background mauriac syndrome is characterised by growth failure, cushingoid appearance and hepatomegaly which occurs in patients with insulin dependent diabetes and was first described shortly after the introduction of insulin as a treatment for the condition. Umpaichitra 48, genetic panel testing for glycogen storage diseases known mutations was negative. Objective to describe the clinical features, histological findings and outcome of young people with glycogenic hepatopathy, the hepatic. Although hepatomegaly and elevated serum transaminases are common findings in mauriac syndrome, other described pediatric manifestations can include malnutrition, growth failure. Puberty progressed rapidly in two older patients with poor final height. Mar 01, 2010 mauriac syndrome a modern reality with the additional findings of short stature in one case, delayed puberty and a cushingoid habitus they were diagnosed with mauriac syndrome. Although hepatomegaly and elevated serum transaminases are common findings in mauriac syndrome, other described pediatric manifestations can include malnutrition, growth failure, and. Mauriac syndrome is an uncommon syndrome described in type 1 diabetic children treated with shortacting insulin. Discovery of a genetic metabolic cause for mauriac syndrome in. All content on this website, including dictionary, thesaurus, literature, geography, and other reference data is for informational purposes only. This entity is traditionally diagnosed during the workup of hepatic enzymes alterations in childrenyoung adults with type 1 diabetes mellitus t1dm with poor glycaemic control. The mauriac syndrome samir najjar, marwan abu ayash, 1974. One child with proliferative retinopathy in both eyes developed vitreous hemorrhage and blindness in one eye. Mauriac syndrome a rare complication of type 1 diabetes.
An often underrecognized finding of glycogenic hepatopathy is lactic acidosis and hyperlactatemia. Winner of the standing ovation award for best powerpoint templates from presentations magazine. In 1930 mauriac described a syndrome characterized by the presence of growth impairment, hepatomegaly, delayed puberty and cushingoid features in patients. Jan 12, 2009 mauriac syndrome is a severe form of growth retardation seen in patients with poorly controlled type 1 diabetes mellitus. Other clinical features include abdominal protuberance, proximal muscle wasting and moon face. A rare case of mauriac syndrome pubmed central pmc. Affected individuals are born with abnormalities of all four limbs and typically have shortened arm and leg bones hypomelia. Discovery of a genetic metabolic cause for mauriac. Mauriac syndrome in a child with a positive antinuclear. Mauriacs syndrome is a rare disease, which includes short stature, growth. Subsequent treatment of hyperglycaemia with high dose of insulin causes further polymerisation of trapped glucose into glycogen.
It is related to low insulin concentrations and is less common since longeracting insulins became available. A rare complication of poorly controlled diabetes mellitus. We discovered a mutation in the catalytic subunit of liver glycogen phosphorylase kinase in a patient with mauriac syndrome whose liver. We discovered a mutation in the catalytic subunit of liver glycogen phosphorylase kinase in a patient with mauriac syndrome whose liver extended into his pelvis. Paradoxically, with improved control, retinopathy progressed rapidly. Mauriac syndrome is characterized by dwarfism, obesity and hepatomegaly in patients with. In this case, poor compliance because of poor literacy was the main cause behind poorly controlled diabetes. It occurs in some children and adolescents with type 1 diabetes irrespective of their glycemic control.
However, hepatomegaly, growth retardation and other clinical features of the syndrome have been found to be reversible with optimization of insulin therapy. False positive sweat test, malnutrition, and the mauriac. For claims with a date of service on or after october 1, 2015, use an equivalent icd10cm code or codes. Mauriac syndrome, a rare complication of insulin dependent. Sir, mauriac syndrome is characterized by dwarfism, obesity and hepatomegaly in patients with insulindependent diabetes mellitus. Mauriac syndrome is an uncommon syndrome described in type 1 diabetic children. Mauriac syndrome, first described in 1947, is a rare complication associated with t1dm and is typically associated with poor insulin compliance and glycemic control. A tenyearold girl, treated for diabetes mellitus with single daily doses of short acting insulin preparations for three years, presented with short stature, truncal obesity, round facies, and hepato megaly. She had elevated levels of plasma cortisol suggesting hyperadreno corticism secondary to the poor diabetic control. Pdf a rare case of persistent lactic acidosis in the icu.
Two required pan retinal photocoagulation with no further progression of their. Learn more about mauriac syndrome from related diseases, pathways, genes and ptms with the novus bioinformatics tool. Isolated patients with this syndrome are still being reported. To conclude, mauriac syndrome is a rare complication of poorly controlled diabetes mellitus in adolescence, but the treating physician should keep a high index of suspicion for this so that proper growth can be accomplished with timely intervention. Here in we report a 35 year old type 1 diabetic patient was admitted to our clinic with elevated.
Mauriac syndrome ms is a rare complication of type 1 diabetes mellitus dm1. Discussion l y cog e nihp atw sf rdb m u 1 930 a s ep ticg ly o n,drf w b topaloglu et al. Recently, there have been cases of this syndrome reported in improperly treated t1dm children, especially with premix insulin. Mauriac syndrome is a wellknown but nowadays uncommon condition that presents with growth retardation secondary to poor glycaemic control. Clinical signs composing this syndrome are frequently incomplete and lactic acidosis could be exacerbated by high doses of insulin and glucose therapy as seen during the ketoacidosis management. There may be different forms and etiologies involved in mauriac syndrome. Worlds best powerpoint templates crystalgraphics offers more powerpoint templates than anyone else in the world, with over 4 million to choose from. Mauriac syndrome and early cataract diabetic springerlink. It is characterized by growth failure, delayed puberty, hepatomegaly and cushingoid features. Primary treatment of glycogenic hepatopathy is improved longterm blood glucose control. Mauriac syndrome definition of mauriac syndrome by medical. Mauriac syndrome is a severe form of growth retardation seen in patients with poorly controlled type 1 diabetes mellitus. Mauriac syndrome is characterised by hepatomegaly, glycogen infiltration of the liver, retarded sexual matura tion, and short stature in diabetic children treated with insufficient insulin and diet.
It is associated with poor control of type 1 diabetes mellitus t1dm in adolescents, and may present as obesity, hepatomegaly, cushingoid facies and elevated transaminases. Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Mauriac syndrome occurs in males and females equally, and is most common in adolescence, although there are reports in children as young as toddlers and in adults. Mauriac syndrome ms is an uncommon complication of uncontrolled type 1 diabetes mellitus. It is characterized by excessive hepatic glycogen storage as first described in 1930 by mauriac as a part of a syndrome comprising growth retardation, delayed puberty, and cushingoid features in young patients with type 1 diabetes 1. When checking for a misdiagnosis of mauriac syndrome or confirming a diagnosis of mauriac syndrome, it is useful to consider what other medical conditions might be possible misdiagnoses or other alternative conditions relevant to diagnosis.
This unique entity is characterized by chronic liver injury with marked elevated liver enzymes and hepatomegaly due to a reversible accumulation of excess glycogen in hepatocytes. This case report is the second known description of a child with mauriac syndrome presenting with positive. The classic features, including hepatomegaly, dwarfism, protuberant abdomen, moonshaped face, and cushingoid fat deposition, diminished after control with longacting insulin and proper dietary management. However, there are common features noted in these patients. The incidence of this syndrome has decreased significantly with introduction of longacting insulin and better control of sugars. The fanconibickel syndrome is a defined clinical entity which is distinguished from other inherited metabolic diseases by complex defects of renal tubular transport and other forms of glycogenosis. Mauriac syndrome article about mauriac syndrome by the. Its reappearance occurred in a yearold diabetic girl. Two required pan retinal photocoagulation with no further progression of their retinopathy. Growth retardation and hepatomegaly in iddm should alert physicians over insufficient management of dm. Mauriac syndrome is characterized by dwarfism, obesity and hepatomegaly in patients with insulindependent diabetes mellitus. Mauriac syndrome is a rare cause of severe growth failure in. Mauriac s syndrome dwarfismhepatomegalyobesityjuvenile diabetes syndrome mauriac syndrome mauriac s syndrome disorder hide descriptions.
Mauriac syndrome, initially described by mauriac in 1930, is one of the causes of hepatomegaly and elevated liver enzymes in poorly controlled diabetic patients. False positive sweat test, malnutrition, and the mauriac syndrome. Due to concern for autoimmune hepatitis, a liver biopsy was performed which revealed mauriac syndrome. Glycogenic hepatopathy pdf new pdf download service. Mauriac syndrome a modern reality, journal of pediatric. Common misdiagnoses and mauriac syndrome mild worm infections undiagnosed in children. Mauriac syndrome is a rare complication of type 1 diabetes characterized by extreme liver enlargement due to glycogen deposition, along with growth failure and delayed puberty. Clinical, biochemical and histopathologic profile of subjects with glycogenic hepatopathy mauriac syndrome. Mauriac syndrome is one of the complications of poorly controlled type1 diabetes mellitus t1dm. Pdf growth failure in type 1 diabetes mellitus t1dm can occur for several. Mauriac syndrome ms or glycogenic hepatopathy is a rare clinical condition complicating poorly controlled diabetes mellitus 1. Mauriac syndrome is a rare disorder but was more common before longacting insulins were introduced for the treatment of dm1 and before hba1c was introduced as a marker of longterm glycemic control.
Theyll give your presentations a professional, memorable appearance the kind of sophisticated look that. Mauriac syndrome is characterized by the presence of hepatomegaly, growth retardation, delayed puberty and cushingoid features. It is characterized by poor glycemic control, hepatomegally, growth disorders with cushinoid features and delayed puberty. Mauriac syndrome is a rare cause of severe growth failure in t1dm. Mauriac syndrome is a rare disorder that can present with the single feature of glycogenic hepatopathy in children and adults with poorly controlled diabetes mellitus. It is characterized by hepatomegaly, growth and puberty delay, and the presence of elevated transaminases and serum lipids. Within our diabetes service we have incorporated regular abdominal examinations for all children and young people with long standing, poorly controlled diabetes. It is a rare syndrome firstly described by mauriac in 1930 and has become even less common after the emergence of advances on diabetes. Sometimes, there is evidence of retinopathy and nephropathy too. Roberts syndrome genetic and rare diseases information. Mauriac syndrome ms or glycogenic hepatopathy is a rare clinical condition complicating. A 17yearold male with type 1 diabetes mellitus t1dm presented to clinic with elevated transaminases and a positive antinuclear antibody ana screen. Mauriac syndrome in a 35 year old woman with type one.