This intragenic deletion appeared to be mediated by recombination between alu sequences in introns 2 and 3. After further investigation, a diagnosis of berardinelli seip syndrome with bilateral. Berardinelli seip syndrome type 2 an egyptian child. The aim of this study was to describe the clinical and laboratory characteristics of a large series of. Only 250 cases of the condition have been reported, and it is. A gene on chromosome 9 bscl1 has recently been identified, predominantly in africanamerican families. Genotypephenotype relationships in berardinelliseip. Abstract berardinelliseip congenital lipodystrophy. Abstract berardinelli seip congenital lipodystrophy. Congenital generalized lipodystrophy cgl of the berardinelliseip type bscl is a. This article is from indian journal of human genetics, volume 20. The syndrome was from the department of pediatrics and dermato confirmed by seip in norway in 1959.
Berardinelli seip congenital lipodystrophy bscl syndrome is a rare autosomalrecessive disease characterised by lipoatrophy and associated with deregulations of glycidic and lipid metabolism. Pdf congenital generalized lipodystrophy berardinelliseip syndrome is an autosomal recessive condition, presenting during infancy with. Symptoms first appeared when the patient was 20 years old. 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. Genetic testing for congenital lipodystrophy, berardinelli. Patients with bscl present with a distinct phenotype since subcutaneous fat is largely lacking and musculature has become more prominent. Berardinelliseip syndrome in a chinese boy with seipin. It is an autosomal recessive disease that leads to a generalized deficit of body fat, evolving with diabetes and hypertriglyceridemia. 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 tissues. It has been variously described as generalized lipodystrophy, congenital lipodystrophy, seip lawrence syndrome and lipoatrophic diabetes. Berardinelliseip syndrome type 2 an egyptian child sciencedirect. 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.
Berardinelli from brazil described mutational and haplotype analysis, bscl families the first patients in 1954. Berardinelli seip congenital lipodystrophy bscl syndrome is a rare autosomalrecessive disease characterized by generalized lipoatrophy, acanthosis nigricans an, diabetes mellitus, muscular hypertrophy, hepatomegaly and hypertriglyceridemia. More recently, mutations in a previously undescribed gene of unknown function bscl2 on chromosome 11, termed seipin, have been found. Mar 15, 2016 background berardinelli seip congenital lipodystrophy bscl was initially described by berardinelli in brazil in 1954 and 5 years later by seip in norway. Berardinelli seip syndrome type 1 or berardinelli seip congenital lipodystrophy 1 bscl1 is a very rare. Berardinelli seip congenital lipodystrophy bscl is a rare autosomal recessive disorder. Congenital generalized lipodystrophy nord national.
Therefore, we aimed to analyze variations of two identified major causative genes, seipin and agpat2, involved in cgl etiology in a mainland chinese affected family and explore the genotypephenotype of berardinelli seip syndrome in asian populations. 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 is inherited as an autosomal recessive disorder. The patient had generalized loss of subcutaneous fat with acanthosis nigricans in the axillae and neck.
Oct 21, 2020 instant access to the full article pdf. Mutations in gng3lg and agpat2 in berardinelliseip. Pdf berardinelliseip congenital lipodystrophy bscl is a rare autosomal recessive disorder of generalised lipoatrophy, characterised by the absence. Berardinelli seip syndrome with insulinresistant diabetes mellitus and stroke in an infant. Pdf berardinelli seip congenital lipodystrophy bscl is a rare autosomal recessive disorder of generalised lipoatrophy, characterised by the absence. Method we analyzed death certificates, and medical records of bscl patients who died between 1997 and. Identification of the gene altered in berardinelliseip. A separate omim entry 272500 was given but it is now generally admitted that bone cysts represent a van maldergem, l. Fat cells are present, but are reduced in number and size and contain little fat 5. Pdf berardinelliseip syndrome and progressive myoclonus.
Berardinelli seip syndrome after berardinelli from brazil, who described the first patients and it was confirmed by seip from norway in 1959. Berardinelli seip syndrome with insulinresistant diabetes. Novel mutations of the bscl2 and agpat2 genes in 10 families with berardinelli seip congenital generalized lipodystrophy syndrome. Is ideal for patients with a clinical suspicion of berardinelli seip syndrome, congenital lipodystrophy or familial partial lipodystrophy. Six patients were children under age 9 years, and all patients had baseline triglycerides levels2. Mutations in the agpat2, bscl2, cav1 and ptrf genes define iiv subtype of bslc respectively and clinical data indicate that new causative genes remain to be discovered. This is a temporary file and hence do not link it from a website, instead link the url of this page if you wish to link the pdf file. Congenital generalized lipodystrophy type i berardinelliseip congenital lipodystrophy type 1. Jun 01, 2004 congenital generalized lipodystrophy cgl, or berardinelli seip syndrome bscl online mendelian inheritance in man omim no. She developed comorbidities like proteinuria, hypertension, diabetes mellitus, and liver fibrosis. Focus on progressive myoclonic epilepsy in berardinelli seip syndrome. Berardinelli seip type bscl is a rare genetic condition characterized by a near total absence of the adipose tissue 4. Recombinant human leptin treatment in genetic lipodystrophic. Abstract a case of berardinelli seip syndrome, a congenital generalised lipodystrophy, is reported.
The prevalence is estimated to be less than 1 per 12 million people 6. Clinically, they all show marked atrophy of adipose tissue, acromegaly, acanthosis nigricans and tall stature. Indian journal of dermatology, venereology and leprology. The syndrome was confirmed by seip in norway in 1959. Berardinelli syn drome is a rare dis ease which causes impor tant met a bolic ab nor mal i ties, which can com pli cate and have a fa tal out come if op timal ther a peu tic and pre ven tive mea sures are not adopted. Brunzell syndrome is the association of bone cysts and lipoatrophic diabetes described in five affected africanamericans from the same sibship. Affected individuals have marked insulin resistance, hypertriglyceridemia, and acanthosis nigricans, hyperandrogenism, muscular. 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. Cgl or berardinelli seip syndrome bss is a rare autosomal recessive disorder. Patients with various types of genetic lipodystrophies. Berardinelliseip syndrome commonly refers to the congenital form of generalized lipodystrophy, whereas seip lawrence syndrome usually refers to the acquired form in which the anabolic syndrome is more variable and immunologic disturbances more common. A truly resourceful and supporting workbook which will help you reach your health goals in a. Congenital general ized lipodystrophy type iii berardinelliseip con genital lipodystrophy type 3.
Berardinelliseip syndrome type 2 an egyptian child. Apr 29, 2020 background berardinelli seip congenital lipodystrophy bscl is a heterogeneous autosomal recessive disorder characterized by an almost total lack of adipose tissue in the body. Pseudoacromegaly in congenital generalised lipodystrophy. Jul 23, 2001 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. Miranda dm, wajchenberg bl, calsolari mr, aguiar mj, silva jm, ribeiro mg, fonseca c, amaral d, boson wl, resende ba. Berardinelli seip congenital lipodystrophy syndrome. Caused by mutations in the gene encoding agpat2 1acylglycerol3phosphateoacyltransferase2 located on chromosome 9q34. This study aimed to evaluate the life expectancy and the causes of death of patients with bscl. Three major criteria or two major plus two or more minor criteria make a diagnosis of bscl likely. 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. From the time of diagnosis, her diabetes did not respond well to treatment.
Berardinelli seip congenital lipodystrophy bscl is a rare autosomal recessive syndrome characterized by a difficulty storing lipid in adipocytes, low body fat, hypoleptinemia, and hyperinsulinemia. Cardiometabolic abnormalities in patients with berardinelli. Bone density in patients with berardinelliseip congenital. Pdf congenital generalized lipodystrophy berardinelli seip syndrome is an autosomal recessive condition, presenting during infancy with.
A case of berardinelli seip syndrome, a congenital generalised lipodystrophy. Abstractberardinelli seip syndrome type 1 or berardinelli seip congenital lipodystrophy 1. Is a 12 gene panel that includes assessment of noncoding variants. 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 severe insulin resistance. Pdf berardinelliseip congenital lipodystrophy satinder.
For language access assistance, contact the ncats public information officer. Berardinelliseip syndrome in peritoneal dialysis topic of. Deletion mutation in bscl2 gene underlies congenital. Talon cusps, macrodontia, and aberrant tooth morphology in. Jul 24, 2020 although the patient has provided consent for publication of this case report and accompanying images, after publication of this article it has come to the authors attention that fig.
It is caused by mutations in the gene encoding for 1acylglycerol3phosphate oacyltransferase2 agpat2 on chromosome 9q34 type 1 or on a gene encoding seipen on chromosome 11q called as berardinelli seip congenital lipodystrophy2 bscl2 type 2. Berardinelli from brazil described the first patients in 1954. The insulin resistance with hyperinsulinemia results in an anabolic syndrome resulting in increased growth velocity, advanced bone age, muscular hypertrophy. Bscl2 and agpat2 genes in berardinelli seip syndrome. Summary context congenital generalized lipodystrophy, or berardinelli seip syndrome, is a rare autosomal recessive disease caused by mutations in either the bscl2 or agpat2 genes.
Caused by mutations in the cav1 caveolin1 gene located on chromosome 7q31. Feb 01, 20 berardinelli seip congenital lipodystrophy bscl syndrome is an autosomal recessive disorder, caused by mutation in the agpat2 gene, which could lead to insulin resistance and variety of complications. Jun 08, 2018 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. If you have problems viewing pdf files, download the latest version of adobe reader. Hallmarks of berardinelliseip 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. Congenital generalized lipodystrophy cgl, or berardinelli seip syndrome bscl online mendelian inheritance in man omim no. Patients with bscl usually present with a distinct phenotype, charac. Berardinelliseip syndrome in peritoneal dialysis topic.
Generalised congenital lipoatrophy or berardinelli seip congenital lipodystrophy bscl syndrome was first described in 1954 by berardinelli, 1 in a 2yearold boy in brazil. Data are also limited regarding genotypephenotype analysis in asian cgl patients. Apr 01, 2015 congenital generalized lipodystrophy cgl of the berardinelli seip type bscl is a rare genetic condition characterized by a near total absence of the adipose tissue. Berardinelli seip syndrome bss or generalized congenital lipodystrophy often affects the cardiovascular system and also promotes metabolic abnormalities involving glycidic and lipid metabolisms. Sequencing of the bscl2 gene, known to be mutated in type 2 cgl cgl2. Novel mutations of the bscl2 and agpat2 genes in 10 families. Pdf berardinelliseip congenital generalised lipodystrophy. Berardinelliseip syndrome in peritoneal dialysis nefrologia. The aim of this paper is to present the main clinical findings and evolution of a fatal case of berardinelli syndrome congenital generalized lipodystrophy. Genotypephenotype correlations of berardinelliseip. Berardinelli seip congenital lipodystrophy bscl is an uncommon autosomal recessive disorder.
Leptin has been judged the first novel, effective, longterm treatment for. 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. Metreleptin myalepta for treatment of lipodystrophy. Clinical and laboratory data of a large series of patients. Generalised lipodystrophy of the berardinelli seip type bscl is a rare autosomal recessive human disorder with severe adverse metabolic consequences. Congenital generalized lipodystrophy is a rare disease characterized by a generalized lack of fat adipose tissue in the body. Pdf berardinelli seip syndrome, or congenital generalized lipodystrophy type 2 cgl2, is characterized by a lack of subcutaneous adipose tissue and.
Berardinelliseip congenital lipodystrophy bscl syndromes. We report here laboratory, bone mineral density bmd, and bone mineral content findings of 21 patients 24. It is a type of lipodystophy disorder where the magnitude of fat loss determines the severity of metabolic complications. She showed severe insulin resistance as well as micro and macroangiopathic complications, including chronic kidney disease, which required renal replacement therapy with peritoneal dialysis. Berardinelli seip syndrome commonly refers to the congenital form of generalized lipodystrophy, whereas. Pdf berardinelliseip syndrome type 2 an egyptian child. 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. Download fulltext pdf download fulltext pdf read fulltext. Congenital generalized lipodystrophy, or berardinelli seip syndrome bscl, is a rare autosomal recessive. Pdf cardiac involvement in total generalized lipodystrophy. We report three bscl cases with its typical clinical picture and complications. 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.
None of them was on treatment with leptin metreleptin, so we believe this is the natural history of the disease. A case with lipodystrophy, acanthosis nigricans and insulin. Focus on progressive myoclonic epilepsy in berardinelli. Congenital generalized lipodystrophy cgl of the berardinelli seip type bscl is a. Agpat2 gene mutation in a child with berardinelliseip. Causes of death in patients with berardinelliseip congenital. To assess the prevalence of cardiometabolic abnormalities in patients with bss. Berardinelliseip syndrome type 1 in an egyptian child. Pdf berardinelliseip syndrome and essential thrombocytosis.
Berardinelli seip syndrome is very uncommon, and the present case is particularly rare because it is the only case at least as. Congenital generalized lipodystrophy genetic and rare. The clinical and imaging features of the syndrome are mostly due to fat deficiency, diabetes, or to manifestations of secondary hyperinsulinemia, which results from the failure of the tissues to respond to insulin. Berardinelli seip syndrome, revealed a homozygous deletion of exon 3 in all five patients examined, suggesting the presence of a founder mutation. Berardinelli seip congenital lipodystrophy bscl syndrome is a rare autosomalrecessive disease characterised by lipoatrophy and associated. Pdf a case of berardinelliseip syndrome presenting with cirrhosis. It was first described more than a halfcentury ago by berardinelli and later by seip. Herein, a 7year old girl is presented with generalized loss of subcutaneous fat, prominent pectoral and thigh muscles and an early telarche. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree.
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