Congenital generalized lipodystrophy cgl, also known as berardinelliseip syndrome bss, is a rare autosomal recessive disease characterized by near total absence of adipose tissue and muscular hypertrophy. A new seipinassociated neurodegenerative syndrome journal. Berardinelli seip congenital lipodystrophy syndrome. The estimated worldwide prevalence is one in 10 million population. Berardinelliseip congenital lipodystrophy in two siblings. Pdf berardinelliseip congenital lipodystrophy researchgate. The point is that the primary abnormality in berardinelliseip congenital lipodystrophy is a lack of functional adipocytes which.
Metformin is the drug of choice for the management of bscl as it controls the glycidic metabolism as well as contributing for an appetite reduction. Berardinelliseip syndrome in a 6yearold boy babu p, sharma. In some cases, loss of adipose tissue is localized, especially if it is preceded by a panniculitis. A case of berardinelliseip syndrome presenting with. Whether bscl2 directly participates in brown adipocyte differentiation, development, and function, however, is unknown. Berardinelliseip congenital lipodystrophy bscl is an uncommon autosomal recessive disorder. Berardinelliseip congenital lipodystrophy cgl type 1 1. Berardinelliseip congenital lipodystrophy bscl is a rare autosomal recessive disorder of generalised lipoatrophy, characterised by the absence of functioning adipocytes, with lipid being stored in muscles, the liver and the pancreas. Berardinelliseip congenital lipodystrophy bscl was initially described by berardinelli in brazil in 1954 and 5 years later by seip in norway. The condition is associated with acromegalic traits fig. Berardinelli seip congenital lipodystrophy cgl type 1 1. Sep 08, 2003 berardinelli seip congenital lipodystrophy bscl is usually diagnosed at birth or soon thereafter. Eight children and adolescents were diagnosed with congenital generalized lipodystrophy berardinelliseip syndrome at the outpatient clinic of nutritional.
Introduction berardinelli seip syndrome is a disorder of metabolism that results in lipodystrophy, endocrine abnormalities, and characteristic skeletal changes. We report five bscl cases with typical clinical pictures and complications. She is a compound heterozygote arg329xtyr170cysfsx6 with typical features of berardinelli seip syndrome and psychomotor delay. Sep 04, 20 this condition affects about one in ten million people. Berardinelliseip congenital lipodystrophy symptoms. Congenital generalized lipodystrophy also known as berardinelliseip lipodystrophy is an extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. Pdf berardinelli seip syndrome with insulinresistant diabetes. Pdf berardinelliseip syndrome type 2 an egyptian child. Lipodystrophy division of nutrition and metabolic diseases. Congenital generalized lipodystrophy is a rare disease characterized by a generalized. The clinical phenotype is similar to that of berardinelliseip syndrome. Berardinelli seip congenital generalized lipodystrophy bscl is an ultrarare metabolic disease characterized by hypertriglyceridemia, hyperinsulinemia, hyperglycemia, hypoleptinemia, and diabetes mellitus. Exome sequencing circumvents missing clinical data and.
Myalept metreleptin injectable medication precertification request aetna precertification notification 503 sunport lane orlando, fl 32809. Could also be used as part of a comprehensive analysis of a persons genes. There are four subclinical phenotypes of cgl cgl14 and mutations in four genes agpat2, bscl2, cav1 and. Affected individuals develop insulin resistance and approximately 25%35% develop diabetes mellitus between ages 15 and 20 years. Cardiac involvement in total generalized lipodystrophy. The syndrome was confirmed in 1959 in norway were seip described a new series of patients originating from the county of rogaland. We identified a consanguineous pakistani family segregating an autosomal recessive phenotype characterized by. Congenital generalized lipodystrophy also called berardinelliseip congenital lipodystrophy is a rare condition characterized by an almost total lack of fatty adipose tissue in the body and a very muscular appearance.
There are four subclinical phenotypes of cgl cgl14 and. Method we analyzed death certificates, and medical records of bscl patients who. Congenital generalized lipodystrophy nord national. More detailed information about the symptoms, causes, and treatments of berardinelliseip congenital lipodystrophy is.
Berardinelliseip congenital generalised lipodystrophy. A case of berardinelli seip syndrome presenting with cirrhosis abstract berardinelli seip congenital lipodystrophy bscl is a rare autosomal recessive disorder of generalised lipoatrophy, characterised by the absence of functioning adipocytes, with lipid being stored in muscles, the liver and the pancreas. It is characterized by a generalized loss of subcutaneous adipose tissue which gives the appearance of muscolar hypertrophy, normal growth development, hepatomegaly, hypertrigliceridaemia, hypertrophy of external genitalia and insulin resistant diabetes. This study aimed to evaluate the life expectancy and the causes of death of patients with bscl. Novel mutations of the bscl2 and agpat2 genes in 10 families with berardinelli seip congenital generalized lipodystrophy syndrome. Impairment of respiratory muscle strength in berardinelli. A mutation in the cfos gene associated with congenital.
As cgl is thought to be related to malfunctions in adipocyte development, genes involved in the mechanisms of adipocyte biology and maintenance or differentiation of adipocytes, especially transcription factors are. We report three bscl cases with its typical clinical picture and complications. The usual presentation is in adulthood, with manifestations of insulin resistance, hypertriglyceridaemia and liver steatosis. Berardinelliseip lipodystrophy back to app chain search. The documents contained in this web site are presented for information purposes only.
Beradinelliseip syndrome stick that in your pipe and smoke it. A patient with congenital lipodystrophy or lipoatrophic diabetes. Berardinelliseip syndrome is an extremely rare disorder that belongs to other group of congenital generalised lipodystrophies. This acyltransferase enzyme, located in the er, catalyses the conversion of lysophosphatidic acid to phosphatidic acid, a key step in the synthesis of triglycerides and glycerophospholipids from glycerol3phosphate. The point is that the primary abnormality in berardinelliseip congenital lipodystrophy is a lack of functional adipocytes which means that those who suffer from this condition do not have fat cells, and cannot store fat. Cgl, also known as berardinelliseip syndrome, and acquired generalized lipodystrophy agl, also known as lawrence syndrome. Human ptrf mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. As cgl is thought to be related to malfunctions in adipocyte development, genes involved in the mechanisms of adipocyte biology and maintenance or differentiation of adipocytes, especially. Berardinelliseip syndrome a case report article pdf available in serbian journal of dermatology and venereology 82 june 2016 with 123 reads how we measure reads.
Congenital generalized lipodystrophy genetics home. May 22, 2015 berardinelli seip congenital lipodystrophy bscl is an uncommon autosomal recessive disorder. Although cardiovascular disturbances have been observed in bscl patients, there are no studies regarding the respiratory muscle strength rms in this. Lipodystrophy study at ut southwestern medical center is dedicated to the study, research, and therapy of human adipose tissue disorders. Treatment consists of a low fat diet, and appropriate management of the. Symptoms first appeared when the patient was 20 years old.
This qualitative study was developed with eleven informants, namely, nine people living with the syndrome and two mothers. We have reported two cases of berardinelli syndrome in a family which is a rare autosomal recessive disorder of the adipose tissue, originally described by berardinelli and seip, has been reported. To describe an unusual case of berardinelliseip syndrome with high bone mineral density bmd. A case of berardinelliseip syndrome presenting with cirrhosis abstract berardinelliseip congenital lipodystrophy bscl is a rare autosomal recessive disorder of generalised lipoatrophy, characterised by the absence of functioning adipocytes, with lipid being stored in muscles, the liver and the pancreas. Berardinelliseip syndrome type 2 an egyptian child. Approximately 120 patients of various ethnic backgrounds have been reported. Seip syndrome, and acquired generalized lipodystrophy agl, also known as lawrence syndrome. Congenital generalised lipodystrophy cgld is an autosomal recessive, transmitted disease characterised by a pronounced loss of subcutaneous and visceral fat tissue manifested since birth. Berardinelliseip congenital lipodystrophy bscl syndrome is a rare genetic disorder caused by dysregulation of glycemic and lipid metabolism. Congenital generalized lipodystrophy cgl, also known as berardinelli seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes garg, 2004. Type 2 is distinguished from type 2 by the origin of the genetic defect. Berardinelliseip syndrome bss or generalized congenital lipodystrophy often affects the cardiovascular system and also promotes metabolic abnormalities involving glycidic and lipid metabolisms. Symptoms first appeared when the patient was 20 years. It is called berardinelliseip syndrome after berardinelli from brazil described the first patients in 1954.
Experience of people living with the berardinelli seip syndrome in the brazilian northeast abstract this paper analyzes the experience of people living with the berardinelli seip syndrome in the brazilian northeast. Congenital generalized lipodystrophy genetic and rare. Clinically, they all show marked atrophy of adipose tissue, acromegaly, acanthosis nigricans. Experience of people living with the berardinelliseip syndrome in the brazilian northeast abstract this paper analyzes the experience of people living with the berardinelliseip syndrome in the brazilian northeast. Pdf berardinelliseip congenital lipodystrophy bscl is a very rare genetic disorder characterized by lipoatrophy, hypertriglyceridemia. These pages provide an overview of the program, as well as information about the research team, therapies, enrolling in patient studies, and additional resources.
Different genes encoding this entity have been described. Clinical and laboratory data of a large series of patients. Berardinelliseip syndrome in peritoneal dialysis core. Beradinelliseip syndrome stick that in your pipe and. Method we analyzed death certificates, and medical records of bscl patients who died between 1997 and. It is an autosomal recessive disease that leads to a generalized deficit of body fat, evolving with diabetes and hypertriglyceridemia. In the european literature, the terms generalized lipodystrophy, congenital. The aim of this study was to describe the clinical and laboratory. Lawrence syndrome lipoatrophic diabetes seip syndrome total lipodystrophyacromegaloid gigantism autosomal recessive dermatological disorders cutis, nodules lipodystrophy hair, changes.
All relevant data are within the paper and its supporting information files. Berardinelliseip congenital generalized lipodystrophy bscl is an ultrarare metabolic disease characterized by hypertriglyceridemia, hyperinsulinemia, hyperglycemia, hypoleptinemia, and diabetes mellitus. Rare disease screening of newborns or adults thinking of having children. Next generation sequencing panels for lipodystrophy. Berardinelliseip syndrome in a 6yearold boy babu p. To assess the prevalence of cardiometabolic abnormalities in patients with bss. Introduction berardinelliseip syndrome is a disorder of metabolism that results in lipodystrophy, endocrine abnormalities, and characteristic skeletal changes. Jun 24, 2019 ff mice, like berardinelli seip patients, are diabetic but normalization of glucose tolerance and significant reduction in circulating insulin fails to alter their skeletal phenotype. This disease is called berardinelli seip syndrome after berardinelli from brazil, who described the first patients, and it was confirmed by seip from norway in 1959. Congenital generalized lipodystrophy cgl or berardinelliseip congenital lipodystrophy bscl is a rare genetic syndrome characterized by the absence of adipose tissue. Seipberardinelli syndrome in a patient referred by low. Congenital generalized lipodystrophy is a rare disease characterized by a generalized lack of fat adipose tissue in the body.
Novel mutations of the bscl2 and agpat2 genes in 10 families with berardinelliseip congenital generalized lipodystrophy syndrome. High bone mass associated with berardinelli lipodystrophy. Deletion mutation in bscl2 gene underlies congenital. She showed severe insulin resistance as well as micro and macroangiopathic complications, including chronic kidney disease, which required renal replacement therapy with peritoneal dialysis. Congenital generalized lipodystrophy cgl, also known as berardinelli seip syndrome, is a rare genetic disorder characterized by the near total loss of body fat adipose tissue and extreme muscularity that is often present at birth or soon thereafter. Acquired generalized lipodystrophy genetic and rare. Seip syndrome, lipodystrophyacromegaloid gigantism, lipodystrophy type berardinelli, bscl acronym of b erardinelli s eip c ongenital l ipodystrophy, congenital generalized lipodystrophy. Association of a homozygous nonsense caveolin1 mutation with berardinelliseip congenital lipodystrophy. Patients with bscl present with a distinct phenotype since subcutaneous fat is largely lacking and musculature has become more prominent. To test this hypothesis we generated a murine model of congenital generalized lipodystrophy in which both brown and white adipose tissue are entirely depleted during embryogenesis. A rare genetic disorder characterized by earlyonset diabetes mellitus, loss of body fat, serious insulin resistance, high blood triglycerides and fatty liver. Total generalized lipodystrophy, also known as berardinelli seip syndrome, is a rare hereditary syndrome of indeterminate cause characterized by severe diabetes mellitus, no ketosisketonuria, insulin resistance, and by the almost total lack of subcutaneous adipose tissue 1,2.
Introduction berardinelliseip congenital lipodystrophy bscl is a rare. Congenital generalized lipodystrophy cgl also known as berardinelli seip congenital lipodystrophy bscl is a genetically heterogeneous disorder characterized by loss of adipose tissues, acanthosis nigricans, diabetes mellitus, muscular hypertrophy, hepatomegaly and hypertriglyceridemia. Causes of death in patients with berardinelliseip congenital. This disease is called berardinelliseip syndrome after berardinelli from brazil, who described the first patients, and it was confirmed by seip from norway in 1959.
Congenital generalized lipodystrophy also called berardinelli seip congenital lipodystrophy is a rare condition characterized by an almost total lack of fatty adipose tissue in the body and a very muscular appearance. We are told, adnauseam, that obesity is the main cause of type ii diabetes. To report a patient later diagnosed with seipberardinelli syndrome referred initially for evaluation due to low weight gain. Introduction berardinelli seip congenital lipodystrophy bscl is a rare autosomal recessive disease that affects the development of adipocytes and leads to an inability to store fat in adipocytes. Seipberardinelli syndrome is a rare form of congenital lipodystrophy. Berardinelliseip syndrome type 2 an egyptian child article pdf available in egyptian journal of medical human genetics 162 august 2014 with 1,191 reads how we measure reads. Member has a diagnosis of congenital generalized lipodystrophy i. It is called berardinelli seip syndrome after berardinelli from brazil described the first patients in 1954. Abstracta case of berardinelliseip syndrome, a congenital generalised lipodystrophy, is reported.
Generalized lipodystrophy and genetic testing types of gl there are 2 types of gl. Experience of people living with the berardinelliseip. Berardinelli seip congenital lipodystrophy orphanet. It was originally described in brazil by berardinelli in 1954 1 and subsequently confirmed in norway by seip in 1958 2. Jun 24, 2014 exome sequencing has become more and more affordable and the technique has emerged as an important diagnostic tool for monogenic disorders at early stages of investigations, in particular when clinical information is limited or unspecific as well as in cases of genetic heterogeneity. Berardinelliseip congenital lipodystrophy 2seipin is not. Pdf a case of berardinelliseip syndrome, a congenital generalised lipodystrophy, is reported.
Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. Although cardiovascular disturbances have been observed in bscl patients, there are no studies regarding the respiratory muscle strength rms in this type of lipodystrophy. It is a type of lipodystophy disorder where the magnitude of fat loss determines the severity of metabolic complications. Inherited disorder with hyperinsulinemia caused by insulin resistance combined with lipodystrophy and acromegaloid features. Congenital generalized lipodystrophy cgl also known as berardinelliseip congenital lipodystrophy bscl is a genetically heterogeneous disorder characterized by loss of adipose tissues, acanthosis nigricans, diabetes mellitus, muscular hypertrophy, hepatomegaly and hypertriglyceridemia. Nurses knowledge about berardinelliseip congenital. Myalept metreleptin injectable medication precertification.
Congenital generalised lipodystrophy berardinelli seip. Berardinelliseip congenital lipodystrophy bscl is usually diagnosed at birth or soon thereafter. Cgl is an autosomal recessive disorder characterized by a generalized lack of adipose tissue at birth or shortly thereafter within the first year of life and is accompanied by prominent muscularity. Berardinelliseip syndrome congenital generalized lipodystrophy is a rare autosomal recessive disorder in which near total absence of the adipose tissue is evident from the birth.
Could also be used as part of a comprehensive analysis of. Berardinelli seip congenital lipodystrophies bscls are autosomal recessive disorders characterized by a generalized loss of adipose tissue from birth, hypertriglyceridemia, hyperinsulinism, glucose intolerance, hepatic steatosis, diabetes mellitus, prominent musculature, hypertrophic cardiomyopathy, bone cysts, umbilical protrusion, acanthosis nigricans, and other clinical. It is part of a group of diseases known as lipodystrophies. Berardinelli seip congenital lipodystrophy bscl also described as generalized lipodystrophy, congenital lipodystrophy, seip lawrence syndrome, and lipoatrophic diabetes is a rare autosomal recessive disorder, reported in approximately 250 patients of various ethnic origins. A rare genetic disorder characterized by diabetes mellitus, loss of body fat, hepatomegaly, enlarged genitals, increased skeletal growth and other abnormalities. Ff mice, like berardinelli seip patients, are diabetic but normalization of glucose tolerance and significant reduction in circulating insulin fails to alter their skeletal phenotype. Berardinelliseip congenital lipodystrophy bscl is characterized by the. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Pdf berardinelli seip congenital lipodystrophy bscl is a rare metabolic disorder characterized by severe generalized lipodystrophy, insulin. Seip syndrome definition of seip syndrome by medical. Berardinelliseip congenital lipodystrophy orphanet. It is characterized by the almost total lack of subcutaneous adipose tissue, severe diabetes mellitus, no ketosisketonuria and insulin resistance. Pdf congenital lipodystrophy induces severe osteosclerosis.
Introduction berardinelliseip congenital lipodystrophy bscl is a rare autosomal recessive disease that affects the development of adipocytes and leads to an inability to store fat in adipocytes. Berardinelliseip congenital lipodystrophy bscl type 2 bscl2. Berardinelli seip syndrome type 2 an egyptian child. Seipberardinelli lipodystrophy sbld is a rare autosomal recessive type of congenital lipodystrophic diabetes. During childhood, diabetes and acanthosis nigricans evolve and female patients may develop hirsutism. Fat cells are present, but are reduced in number and size and contain little fat 5. He is the second uncle of the fifth case and was a compound heterozygote arg329xtyr170cysfsx6 with a mixed phenotype, both lipodystrophic and neurological. These, to the best of our knowledge, represent the first case series from pakistan. Berardinelliseip congenital lipodystrophies bscls are autosomal recessive disorders characterized by a generalized loss of adipose tissue from birth, hypertriglyceridemia, hyperinsulinism, glucose intolerance, hepatic steatosis, diabetes mellitus, prominent musculature, hypertrophic cardiomyopathy, bone cysts, umbilical protrusion, acanthosis nigricans, and other. Berardinelli seip congenital lipodystrophy bscl is usually diagnosed at birth or soon thereafter. Lipodystrophy and gigantism with associated endocrine manifestations a new. Beradinelliseip syndrome stick that in your pipe and smoke. Mim 608 594, 269 700 berardinelliseiplawrence syndrome. Berardinelliseip type bscl is a rare genetic condition characterized by a near total absence of the adipose tissue 4.
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