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. It is caused by mutations in the gene for agpat2 on chromosome 9 or bscl2seipin on chromosome 11. Congenital generalized lipodystrophy genetics home. Congenital generalized lipodystrophy cgl of the berardinelliseip type bscl is a rare genetic condition characterized by a near total absence of the adipose tissue. Congenital generalized lipodystrophy, or berardinelliseip syndrome bscl, is a rare autosomal recessive disease characterized by a nearabsence of. Patients with cgl4 have a wide variety of clinical manifestations. Pseudoacromegaly in congenital generalised lipodystrophy. Berardinelli syndrome is an autonomic recessive disease, with mutation in the gene which codifies the agpac ii protein, in the chromosome 9 9834, and in the seipin gene, which codifies the seipin protein, in the chromosome 118 1, 8. Berardinelliseip congenital lipodystrophy bscl is a welldefined syndrome which is characterized by a generalized absence of adipose tissue from birth or shortly after, as well as severe insulin resistance 7, 8. High bone mass associated with berardinelli lipodystrophy. Pdf umbilical hernia in patients with berardinelliseip. Congenital generalized lipodystrophy type 4 genetic and. Berardinelli from brazil described the first patients in 1954, and since then it has been called berardinelli seip syndrome. Clinically, they all show marked atrophy of adipose tissue, acromegaly, acanthosis nigricans and tall stature.
Patients with various types of genetic lipodystrophies. For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy. In the european literature, the terms generalized lipodystrophy, congenital. It stores fat for energy and also provides cushioning. Congenital generalized lipodystrophy is a rare autosomal recessive disorder characterized by the absence of adipose tissue and insulin resistance. Congenital generalized lipodystrophy, or berardinelli seip syndrome bscl, is a rare autosomal recessive disease characterized by a nearabsence of adipose tissue from birth or early infancy and. Hallmarks of berardinelli seip syndrome are a nearabsent adipose tissue present already at birth or in early infancy and a congenital nonketoacidotic insulin resistance with variable degrees of glucose intolerance and diabetes mellitus. The guides provide a resource for clinicians about specific rare disorders to facilitate diagnosis and treatment of their patients with this condition. Acromegaly is a rare disease, secondary to the chronic hypersecretion of growth hormone and insulinlike growth factor1, with.
Berardinelli seip syndrome or congenital generalized lipodystrophy is an autosomal recessive disorder characterized by generalized loss of body fat involving face, trunks and limb. Congenital generalized lipodystrophy cgl, also called berardinelli seip syndrome. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. It is part of a group of diseases known as lipodystrophies. A separate omim entry 272500 was given but it is now generally admitted that bone cysts represent a van maldergem, l. Could also be used as part of a comprehensive analysis of a persons genes.
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. Congenital generalized lipodystrophy also known as berardinelli seip lipodystrophy is an extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. Experience of people living with the berardinelliseip. It is called berardinelli seip syndrome after berardinelli from brazil described the first patients in 1954. Berardinelli seip syndrome bss or berardinelli seip congenital lipoatrophy, is a rare autosomal recessive genetic disease, with only up to 200 reported cases to date.
Congenital generalized lipodystrophy of berardinelliseip. Congenital generalized lipodystrophy was originally described by berardinelli 1954 and seip 1959 as a disorder of metabolism, lipodystrophy, and endocrine abnormalities. Berardinelli seip congenital lipodystrophy bscl is a rare autosomal recessive disease characterized by the almost complete absence of adipose tissue. Full text new advances in the treatment of generalized.
Seip 1959 reported affected brother and sister, and suggested diencephalic origin. At this point i shall introduce you to berardinelli seip congenital lipodystrophy. 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. 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. Pdf nurses knowledge about berardinelliseip congenital. Pdf congenital generalized lipodystrophy semantic scholar. This article is from indian journal of human genetics, volume 20. Signs and symptoms are noticed from birth congenital or early childhood and include high levels of fats triglycerides in the blood hypertriglyceridemia and insulin resistance in which the body. Congenital generalised lipodystrophy cgl, or berardinelli seip syndrome, is a rare autosomal recessive condition with a prevalence of 1 in 10 million and is characterised by near complete loss of body fat, insulin resistance and its systemic consequences. Congenital generalized lipodystrophy berardinelli seip syndrome cgl is an autosomal recessive disorder characterized by nearcomplete lack of fat starting at birth or infancy, prominent muscles, phlebomegaly, acanthosis nigricans, hepatomegaly, umbilical prominence, and voracious appetite in childhood 9, 10. Beradinelliseip syndrome stick that in your pipe and.
Congenital generalized lipodystrophy or berardinelli seip syndrome is a rare autosomal recessive multisystem disorder characterized by the near absence of subcutaneous and visceral adipose tissue from birth or early infancy with severe insulin resistance. Abstractberardinelli seip syndrome type 1 or berardinelli seip congenital lipodystrophy 1. Congenital generalized lipodystrophy is an autosomal recessive syndrome, with a prevalence berardinelli seip congenital lipodystrophy, is a rare genetic disorder characterized by loss of adipose tissue and marked insulin resistance. 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. Congenital generalized lipodystrophy of berardinelli seip type is a rare autosomal recessive disorder characterized by nearly complete absence of adipose tissue and a consequent generalized muscular appearance, which is recognized easily at birth. 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. It is characterized by the almost total lack of subcutaneous adipose tissue, severe diabetes mellitus, no ketosisketonuria and insulin resistance. Cardiac manifestations of congenital generalized lipodystrophy. Agpat2 is mutated in congenital generalized lipodystrophy. The aim of this article is to identify whether bscl patients have umbilical herniation or protrusion. Genotypephenotype relationships in berardinelliseip.
Berardinelli seip congenital lipodystrophy bscl syndrome is a rare autosomalrecessive disease characterised by lipoatrophy and associated with deregulations of glycidic and lipid metabolism. Clinically, they all show marked atrophy of adipose tissue, acromegaly, acanthosis nigricans. Patients with bscl usually present with a distinct phenotype, characterized by lack of subcutaneous fat and presence. Talon cusps, macrodontia, and aberrant tooth morphology in. Bscl is a rare syndrome with an estimated prevalence of 1 in every 10 million births. Cardiometabolic abnormalities in patients with berardinelli. Retinopathy and uveitis in congenital generalized lipodystrophy with hypertriglyceridemia and uncontrolled diabetes berardinelliseip syndrome. 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 in approximately 120 patients of various ethnic origins.
Download pdf main we have previously mapped a form of congenital generalized lipodystrophy also known as berardinelli seip syndrome to the cgl1 locus on chromosome 9q34 using genetic linkage. Bscl type 1 bscl1 is caused by mutations in agpat2, encoding 1acylglycerol3phosphateoacyltransferase. Acromegaly with congenital generalized lipodystrophy two. To assess the prevalence of cardiometabolic abnormalities in patients with bss.
Rare disease screening of newborns or adults thinking of having children. We report the case of a 16yearold girl presenting with dehydration, fatigue, and myalgia, associated with severe hyperglycemia, hypernatremia, and dramatically increased levels of liver enzymes, lactate dehydrogenase, and creatine kinase in the absence of. Berardinelli seip syndrome is a congenital disorder of metabolism. Berardinelli seip congenital lipodystrophy cgl type 1 1. To describe an unusual case of berardinelli seip syndrome with high bone mineral density bmd. Due to a strong founder effect that resulted in a higher prevalence of bscl in rio grande do norte rn, a state in northeastern brazil, it has been essential that health professionals develop knowledge about this disease. The estimated worldwide prevalence is one in 10 million population. Seipinlinked congenital generalized lipodystrophy type 2. Cardiac involvement in total generalized lipodystrophy. It was first described by berardinelli in 1954 in brazil and further characterized by seip and trygstad and was subsequently named as berardinelliseip congenital lipodystrophy bscl. Fat cells are present, but are reduced in number and size and contain little fat. A 15yearold girl, followed since the age of three months in the genetic outpatients cli. Generalised congenital lipoatrophy or berardinelli seip congenital lipodystrophy bscl syndrome was first described in 1954 by berardinelli, 1 in a 2yearold boy in brazil. Acquired generalized lipodystrophy genetic and rare.
A gene on chromosome 9 bscl1 has recently been identified, predominantly in africanamerican families. Beradinelliseip syndrome stick that in your pipe and smoke. May 22, 2015 berardinelli seip congenital lipodystrophy bscl is an uncommon autosomal recessive disorder. Congenital generalized lipodystrophy nord national. We report three bscl cases with its typical clinical picture and complications.
Lipodystrophic muscular hypertrophy senior, 1961 may be the same entity. Apr 22, 2002 download pdf main we have previously mapped a form of congenital generalized lipodystrophy also known as berardinelliseip syndrome to the cgl1 locus on chromosome 9q34 using genetic linkage. Sep 08, 2003 berardinelli seip congenital lipodystrophy bscl is usually diagnosed at birth or soon thereafter. Congenital generalized lipodystrophy cgl cgl is a rare autosomal recessive disorder in which near total absence of the adipose tissue is usually evident from the birth. 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. Berardinelli seip congenital lipodystrophy bscl is an autosomal recessive disorder, first described by berardinelli in 1954 and subsequently by seip in 1959. Berardinelli seip syndrome type 2 an egyptian child. 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. Berardinelliseip congenital lipodystrophy in two siblings. Cushing syndrome is a rare endocrine disorder that results from excessive production of the hormone cortisol by the adrenal glands. It is a type of lipodystophy disorder where the magnitude of fat loss determines the severity of metabolic complications. Umbilical hernia is often described in several cases of berardinelli seip congenital lipodystrophy bscl.
D a s and l a k s h m i m e h t a appearing on page 551 of the julyaugust 1991 issue, the figures 1 and 2 are interspersed. Lipodystrophies are a group of diseases which are characterized by abnormal adipose tissue deposition and are frequently associated with metabolic changes. Sep 04, 20 this condition affects about one in ten million people. Diagnosis and management of lipodystrophy syndromes. The product is a recombinant analogue of human leptin and is claimed to be the first and only licensed treatment in europe indicated as an adjunct to diet as a replacement therapy to treat the complications of leptin deficiency in ld patients with confirmed congenital generalised ld berardinelliseip syndrome or acquired generalised ld lawrence syndrome in adults and. The nord physician guide for congenital generalized lipodystrophy type 4 was developed as a free service of the national organization for rare disorders nord and its medical advisors. Cgl, or berardinelli seip syndrome bscl, is a part of the spectrum of lipodystrophic syndromes constituting a heterogeneous group of disorders categorized based on etiology genetic or acquired and distribution of lost adipose tissue, affecting the entire body generalized or only regionally partially. Berardinelli seip syndrome bss or generalized congenital lipodystrophy often affects the cardiovascular system and also promotes metabolic abnormalities involving glycidic and lipid metabolisms. A hallmark of this disorder is a low leptin level, leading to a voracious appetite in affected individuals. Berardinelli seip syndrome europe pmc article europe pmc. Affected individuals may gain excessive amounts of weight central obesity andor may have a round, moonshaped face. 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.
Jul 08, 2015 berardinelliseip syndrome has a prevalence of approximately 1 in 10 million 300 known cases worldwide, with the highest frequency in brazil individuals. Berardinelli syndrome, congenital generalized lipodystrophy, insulin resistance. Only 250 cases of the condition have been reported, and it is. The clinical and laboratory features of the syndrome are mostly due to fat deficiency, diabetes, or to manifestations of secondary hyperinsulinemia. Congenital generalized lipodystrophy, or berardinelliseip syndrome bscl, is a rare autosomal recessive disease characterized by a nearabsence of adipose tissue from birth or early infancy and. Congenital generalized lipodystrophy cgl, also called berardinelli seip congenital lipodystrophy, is a rare genetic disorder characterized by loss of adipose tissue and marked insulin resistance. Next generation sequencing panels for lipodystrophy.
Berardinelli seip syndrome congenital generalized lipodystrophy type 2. Berardinelliseip congenital lipodystrophy bscl is an autosomal recessive disorder, first described by berardinelli in 1954 and subsequently by seip in 1959. Inherited lipodystrophy is actually a group of related illnesses. Congenital generalized lipodystrophy also known as berardinelli seip syndrome is an extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. 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. Berardinelliseip congenital lipoatrophy bscl is characterized by near total fat atrophy, associated with the progressive development of metabolic complications. Berardinelliseip syndrome in a 6yearold boy babu p, sharma. The patient had generalized loss of subcutaneous fat with acanthosis nigricans in the axillae and. Congenital generalized lipodystrophy was first described by waldemar berardinelli in 1954 and later on further outlined by martin seip. Patients with bscl present with a distinct phenotype since subcutaneous fat is largely lacking and musculature has become more prominent. This qualitative study was developed with eleven informants, namely, nine people living with the syndrome and two mothers.
The syndrome was confirmed in 1959 in norway were seip described a new series of patients originating from the county of rogaland. Berardinelli seip congenital lipodystrophy bscl syndrome is a rare genetic disorder caused by dysregulation of glycemic and lipid metabolism. Berardinelliseip syndrome definition of berardinelli. 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. Berardinelli seip congenital lipoatrophy bscl is characterized by near total fat atrophy since birth, associated with the progressive development of metabolic complications. The terms berardinelliseip syndrome returned 14 free, fulltext research articles. It was first described more than a halfcentury ago by berardinelli and later by seip. Congenital generalized lipoatrophy berardinelliseip. This condition affects about one in ten million people. The prevalence is estimated to be less than 1 per 12 million people.
It is characterized by insulinresistant diabetes mellitus and deficiency of adipose tissue. Lipodystrophy and gigantism with associated endocrine manifestations a. The genetic basis of short syndrome, neonatal progeroid syndrome nps and some other rare types of lipodystrophy remains to be elucidated. Approximately 120 patients of various ethnic backgrounds have been reported. The aim of this paper is to present the main clinical findings and evolution of a fatal case of berardinelli syndrome congenital generalized lipodystrophy. Familial partial, kobberling variety and other types inherited. Berardinelliseip congenital lipodystrophy bscl syndrome is a rare autosomalrecessive disease characterised by lipoatrophy and associated with deregulations of glycidic and lipid metabolism. In some cases, loss of adipose tissue is localized, especially if it is preceded by a panniculitis. The condition is associated with various dermatological and systemic manifestations.
Different genes encoding this entity have been described. Generalised lipodystrophy of the berardinelli seip type bscl is a rare autosomal recessive human disorder with severe adverse metabolic consequences. More recently, mutations in a previously undescribed gene of unknown function bscl2 on chromosome 11, termed seipin, have been found. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Following is a summary of the literature on cgl as it pertains to the heart.
Berardinelli seip congenital lipodystrophy bscl is a welldefined syndrome which is characterized by a generalized absence of adipose tissue from birth or shortly after, as well as severe insulin resistance 7, 8. Brunzell syndrome is the association of bone cysts and lipoatrophic diabetes described in five affected africanamericans from the same sibship. Familial partial, mandibuloacral dysplasia variety fplmad inherited. 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. Congenital generalized lipodystrophy genetic and rare. Jan 01, 2009 the clinical phenotype is similar to that of berardinelli seip syndrome see this term, but lipoatrophy appears secondarily during childhood, adolescence or adulthood, and as a result the syndrome is thought to be acquired. Affected individuals develop insulin resistance and approximately 25%35% develop diabetes mellitus between ages 15 and 20 years.
Acquired lipodystrophy nord national organization for. The condition is inherited as an autosomal recessive trait, which is often associated with parental consanguinity 9. Congenital generalized lipodystrophy is a rare disease characterized by a generalized lack of fat adipose tissue in the body. During childhood, diabetes and acanthosis nigricans evolve and female patients may develop hirsutism.
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