Berardinelli Seip syndrome with insulin-resistant diabetes mellitus and stroke in an infant

Indumathi, C K; Lewin, Sanjiv; Ayyar, Vageesh

doi:10.4103/2230-8210.83054

Cited by 10 publications

(14 citation statements)

References 8 publications

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“…68 An isolated case report has also described stroke in a 5monthold male infant with a clinical diagnosis of CGL (although this diagnosis was not confirmed by genetic analysis). 69 However, other atherosclerotic vascular complications such as coronary heart disease or peripheral vascular disease have not been reported in the literature. The serum levels of leptin and adiponectin are markedly reduced in patients with CGL secondary to near total loss of fat.…”

Section: Congenital Generalized Lipodystrophymentioning

confidence: 98%

Congenital generalized lipodystrophies—new insights into metabolic dysfunction

2015

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Congenital generalized lipodystrophy (CGL) is a heterogeneous autosomal recessive disorder characterized by a near complete lack of adipose tissue from birth and, later in life, the development of metabolic complications, such as diabetes mellitus, hypertriglyceridaemia and hepatic steatosis. Four distinct subtypes of CGL exist: type 1 is associated with AGPAT2 mutations; type 2 is associated with BSCL2 mutations; type 3 is associated with CAV1 mutations; and type 4 is associated with PTRF mutations. The products of these genes have crucial roles in phospholipid and triglyceride synthesis, as well as in the formation of lipid droplets and caveolae within adipocytes. The predominant cause of metabolic complications in CGL is excess triglyceride accumulation in the liver and skeletal muscle owing to the inability to store triglycerides in adipose tissue. Profound hypoleptinaemia further exacerbates metabolic derangements by inducing a voracious appetite. Patients require psychological support, a low-fat diet, increased physical activity and cosmetic surgery. Aside from conventional therapy for hyperlipidaemia and diabetes mellitus, metreleptin replacement therapy can dramatically improve metabolic complications in patients with CGL. In this Review, we discuss the molecular genetic basis of CGL, the pathogenesis of the disease's metabolic complications and therapeutic options for patients with CGL.

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Section: Congenital Generalized Lipodystrophymentioning

confidence: 98%

Congenital generalized lipodystrophies—new insights into metabolic dysfunction

2015

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“…The unusual feature of our patient 1 was the development of diabetes mellitus at the very early age of 2 months. There are only two patient reports of overt diabetes mellitus described at ages 4 and 5 months (12,18). Our patient is the youngest reported CGL patient with diabetes mellitus so far.…”

Section: Discussionmentioning

confidence: 99%

Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy

Su¹,

Lin²,

Huang³

et al. 2017

Jcrpe

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Objective:To investigate the clinical and molecular features of congenital generalized lipodystrophy (CGL) in three Chinese patients with various typical manifestations.Methods:Data on clinical symptoms, results of laboratory analyses, and previous treatments in three Chinese patients were collected by a retrospective review of medical records. All coding regions and adjacent exon–intron junction regions of AGPAT2 and BSCL2 genes were amplified by polymerase chain reaction and sequenced.Results:Generalized lipodystrophy, acanthosis nigricans, muscular hypertrophy, severe hypertriglyceridemia, and hepatomegaly were features in all three patients. Patient 1 developed diabetes mellitus at the early age of 2 months and he was the youngest CGL patient reported with overt diabetes. Patient 2 was found to have cardiomyopathy when she was aged 6 months. All of the patients were found to have mutations in the BSCL2 gene, but none of these was a novel mutation. We did not find any AGPAT2 mutation in our patients.Conclusion:All of our patients exhibited characteristic features of CGL due to mutations in the BSCL2 gene.

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“…It was first described by Berardinelli in 1954 and was later confirmed by Seip in 1959. 1 About 200 cases have been reported among various ethnic groups worldwide, with a current prevalence of less than 1:12 million. 1 An extensive literature survey did not reveal any reported case of this syndrome in the Sri Lankan population.…”

Section: Discussionmentioning

confidence: 99%

A case of Berardinelli-Seip syndrome presenting clinical with cirrhosis

Wimalaratna¹,

Nandasiri²

2013

J R Coll Physicians Edinb

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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. The usual presentation is in adulthood, with manifestations of insulin resistance, hypertriglyceridaemia and liver steatosis. Cirrhosis as the first presentation of BSCL in a young adult is rare. We describe a patient with BSCL presenting with cirrhosis. To the best of our knowledge this is the first case of BSCL reported in a Sri Lankan patient.

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Berardinelli Seip syndrome with insulin-resistant diabetes mellitus and stroke in an infant

Cited by 10 publications

References 8 publications

Congenital generalized lipodystrophies—new insights into metabolic dysfunction

Congenital generalized lipodystrophies—new insights into metabolic dysfunction

Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy

A case of Berardinelli-Seip syndrome presenting clinical with cirrhosis

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