634 results match your criteria Lipodystrophy Generalized

Hypothalamic Pilomyxoid Astrocytoma in a Child with Lipodystrophy.

AJNR Am J Neuroradiol 2021 May 6. Epub 2021 May 6.

Department of Radiology (J.C.B., T.J.K., L.E., J.G.), Mayo Clinic, Rochester, Minnesota.

Pilomyxoid astrocytoma is a rare form of pediatric CNS malignancy first classified in 2007 by the World Health Organization. The tumors are similar to pilocytic astrocytomas, sharing both some imaging and histologic traits. However, pilomyxoid astrocytomas portend a more ominous prognosis, with more aggressive local tendencies and a greater proclivity for leptomeningeal spread. Read More

View Article and Full-Text PDF

Celia's Encephalopathy (-Gene-Related): Current Understanding.

J Clin Med 2021 Apr 1;10(7). Epub 2021 Apr 1.

UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, 15782 Santiago de Compostela, Spain.

Seipin, encoded by the gene, is a protein that in humans is expressed mainly in the central nervous system. Uniquely, certain variants in can cause both generalized congenital lipodystrophy type 2, upper and/or lower motor neuron diseases, or progressive encephalopathy, with a poor prognosis during childhood. The latter, Celia's encephalopathy, which may or may not be associated with generalized lipodystrophy, is caused by the c. Read More

View Article and Full-Text PDF

Atypical progeroid syndrome (p.E262K LMNA mutation): a rare cause of short stature and osteoporosis.

Endocrinol Diabetes Metab Case Rep 2021 Apr 14;2021. Epub 2021 Apr 14.

Endocrinology Research CentreMoscow, Russia.

Summary: Lamin A/C (LMNA) gene mutations cause a heterogeneous group of progeroid disorders, including Hutchinson-Gilford progeria syndrome, mandibuloacral dysplasia, atypical progeroid syndrome (APS) and generalized lipodystrophy-associated progeroid syndrome (GLPS). All of those syndromes are associated with some progeroid features, lipodystrophy and metabolic complications but vary differently depending on a particular mutation and even patients carrying the same gene variant are known to have clinical heterogeneity. We report a new 30-year-old female patient from Russia with an APS and generalized lipodystrophy (GL) due to the heterozygous de novo LMNA p. Read More

View Article and Full-Text PDF

Effect of Leptin Therapy on Survival in Generalized and Partial Lipodystrophy: A Matched Cohort Analysis.

J Clin Endocrinol Metab 2021 Apr 2. Epub 2021 Apr 2.

National Institute of Diabetes & Digestive & Kidney Diseases, Bethesda, MD, USA.

Context: Data quantifying the impact of metreleptin therapy on survival in nonHIVrelated generalized lipodystrophy (GL) and partial lipodystrophy (PL) are unavailable.

Objective: This study aimed to estimate the treatment effect of metreleptin on survival in patients with GL and PL.

Design/setting/patients: Demographic and clinical characteristics were used to match metreleptin-treated and metreleptin-naïve patients with GL and PL. Read More

View Article and Full-Text PDF

Effects of Metreleptin on Patient Outcomes and Quality of Life in Generalized and Partial Lipodystrophy.

J Endocr Soc 2021 Apr 16;5(4):bvab019. Epub 2021 Feb 16.

National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

Generalized and partial lipodystrophy are rare and complex diseases with progressive clinical and humanistic burdens stemming from selective absence of subcutaneous adipose tissue, which causes reduced energy storage capacity and a deficiency of adipokines such as leptin. Treatment options were limited before leptin replacement therapy (metreleptin) became available. This retrospective study evaluates both clinical and humanistic consequences of the disease and treatment. Read More

View Article and Full-Text PDF

Rare Forms of Lipomatosis: Dercum's Disease and Roch-Leri Mesosomatous Lipomatosis.

J Clin Med 2021 Mar 21;10(6). Epub 2021 Mar 21.

Endocrinology, Diabetology and Metabolism, CHU Lille, 59000 Lille, France.

In contrast to obesity, which is very frequent, lipomatosis and lipodystrophy syndromes are rare diseases of adipose tissue. Lipodystrophy syndromes are characterized by metabolic abnormalities associated with partial or generalized lipoatrophy. Lipomatosis is defined by the presence of several body lipomas without lipoatrophy. Read More

View Article and Full-Text PDF

Endoplasmic reticulum stress and muscle dysfunction in congenital lipodystrophies.

Biochim Biophys Acta Mol Basis Dis 2021 Jun 11;1867(6):166120. Epub 2021 Mar 11.

Departamento de Medicina Clínica, Hospital Universitário Onofre Lopes (HUOL)/UFRN, Natal, RN, Brazil.

Lipodystrophy syndromes are a group of rare diseases related to the pathological impairment of adipose tissue and metabolic comorbidities, including dyslipidemia, diabetes, insulin resistance, hypoleptinemia, and hypoadiponectinemia. They can be categorized as partial or generalized according to the degree of fat loss, and inherited or acquired disorders, if they are associated with genetic mutations or are related to autoimmunity, respectively. Some types of lipodystrophies have been associated with changes in both redox and endoplasmic reticulum (ER) homeostasis as well as muscle dysfunction (MD). Read More

View Article and Full-Text PDF

Deficiency Does Not Directly Impair the Innate Immune Response in a Murine Model of Generalized Lipodystrophy.

J Clin Med 2021 Jan 23;10(3). Epub 2021 Jan 23.

The Rowett Institute, University of Aberdeen, Foresterhill, Aberdeen AB25 2ZD, UK.

Congenital Generalized Lipodystrophy type 2 (CGL2) is the most severe form of lipodystrophy and is caused by mutations in the gene. Affected patients exhibit a near complete lack of adipose tissue and suffer severe metabolic disease. A recent study identified infection as a major cause of death in CGL2 patients, leading us to examine whether loss could directly affect the innate immune response. Read More

View Article and Full-Text PDF
January 2021

Apolipoprotein CIII and Angiopoietin-like Protein 8 are Elevated in Lipodystrophy and Decrease after Metreleptin.

J Endocr Soc 2021 Feb 4;5(2):bvaa191. Epub 2020 Dec 4.

National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA.

Context: Lipodystrophy syndromes cause hypertriglyceridemia that improves with leptin treatment using metreleptin. Mechanisms causing hypertriglyceridemia and improvements after metreleptin are incompletely understood.

Objective: Determine relationship of circulating lipoprotein lipase (LPL) modulators with hypertriglyceridemia in healthy controls and in patients with lipodystrophy before and after metreleptin. Read More

View Article and Full-Text PDF
February 2021

Altered acylated ghrelin response to food intake in congenital generalized lipodystrophy.

PLoS One 2021 7;16(1):e0244667. Epub 2021 Jan 7.

Departamento de Fisiologia, Universidade Federal de São Paulo (UNIFESP), Escola Paulista de Medicina, São Paulo, São Paulo, Brazil.

Background: Patients with congenital generalized lipodystrophy (CGL) have very low levels of leptin and are described as having a voracious appetite. However, a direct comparison between CGL and eutrophic individuals is lacking, regarding both appetite parameters and acylated ghrelin, the hormone form that is active in acute food intake stimulation. The objective of the present study was to address whether and in what extent the subjective appetite parameters and acylated ghrelin response to a meal are affected in CGL individuals, in comparison to eutrophic individuals. Read More

View Article and Full-Text PDF

A novel AGPAT2 mutation associated with a case of late-diagnosed congenital generalized lipodystrophy type 1.

Acta Diabetol 2021 Apr 2;58(4):505-511. Epub 2021 Jan 2.

Department of Endocrinology, Medical University of Sofia, 2 Zdrave Str, 1431, Sofia, Bulgaria.

View Article and Full-Text PDF

Evolving clinical manifestations of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: From infancy to adulthood in a 31-year-old woman.

Am J Med Genet A 2021 03 23;185(3):995-998. Epub 2020 Dec 23.

Department of Health, Clinical Genetic Service, Kowloon, Hong Kong.

Mandibular hypoplasia, deafness, progeroid feature, and lipodystrophy syndrome (MDPL, MIM# 615381) is an extremely rare and recently recognized early adult onset of progeroid syndrome, with features of generalized lipodystrophy, dysmorphic features, telangiectasia, early onset hearing loss, insulin resistance, and dyslipidemia. Here, we present a 31-year-old Chinese woman with MDPL, harboring the recurrent pathogenic variant p.(Ser605del) in POLD1, illustrating the evolving manifestations of this premature aging disorder from infancy to adulthood. Read More

View Article and Full-Text PDF

Studies of 96 children with Juvenile Dermatomyositis: P155/140, is associated with loss of nailfold capillaries, but not generalized lipodystrophy.

Arthritis Care Res (Hoboken) 2020 Dec 8. Epub 2020 Dec 8.

Division of Pediatric Rheumatology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.

Objective: Myositis-specific antibodies (MSA) facilitate grouping children with Juvenile Dermatomyositis (JDM) into distinct phenotypes. Aim one of this study investigates the link between anti-P155/140 and lipodystrophy as determined by DXA assessment of fat distribution. Aim two examines the relationship between anti-P155/140 and damage to the nailfold capillary system. Read More

View Article and Full-Text PDF
December 2020

Lipodystrophies-Disorders of the Fatty Tissue.

Int J Mol Sci 2020 Nov 20;21(22). Epub 2020 Nov 20.

German Diabetes-Center, Leibniz Center for Diabetes Research at Heinrich-Heine-University Düsseldorf, 40225 Düsseldorf, Germany.

Lipodystrophies are a heterogeneous group of physiological changes characterized by a selective loss of fatty tissue. Here, no fat cells are present, either through lack of differentiation, loss of function or premature apoptosis. As a consequence, lipids can only be stored ectopically in non-adipocytes with the major health consequences as fatty liver and insulin resistance. Read More

View Article and Full-Text PDF
November 2020

A Rare Case Of Berardinelli Seip Syndrome.

J Ayub Med Coll Abbottabad 2020 Oct-Dec;32(4):577-579

Department of Medicine, Ayub Medical College, Abbottabad, Pakistan.

Berardinelli Seip Syndrome is a rare disorder associated with loss of adipose tissue leading to a myriad of findings owing to derangements of carbohydrate and lipid metabolism. There is no cure and the management comprising low fat diet, metformin and leptin replacement is aimed at preventing complications. We report this syndrome in a male child from Afghanistan. Read More

View Article and Full-Text PDF

Metreleptin for the treatment of progressive encephalopathy with/without lipodystrophy (PELD) in a child with progressive myoclonic epilepsy: a case report.

Ital J Pediatr 2020 Oct 24;46(1):158. Epub 2020 Oct 24.

Unit of Endocrinology, Bambino Gesù Children's Hospital, Rome, Italy.

Background: A number of genetic syndromes associated with variants in the BSCL2/seipin gene have been identified. Variants that cause skipping of exon 7 are associated with progressive encephalopathy with/without lipodystrophy (PELD), which is characterized by the development of progressive myoclonic epilepsy at a young age, severe progressive neurological impairment, and early death, often in childhood. Because the genetic basis of PELD is similar to that of congenital lipodystrophy type 2, we hypothesized that a patient with PELD may respond to treatments approved for other congenital lipodystrophic syndromes. Read More

View Article and Full-Text PDF
October 2020

Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.

Neurol Sci 2021 04 21;42(4):1597-1598. Epub 2020 Oct 21.

UETeM, CIMUS-IDIS, School of Medicine, University of Santiago de Compostela, Avda Barcelona s/n, 15782, Santiago de Compostela, Spain.

View Article and Full-Text PDF

Cavin1 Deficiency Causes Disorder of Hepatic Glycogen Metabolism and Neonatal Death by Impacting Fenestrations in Liver Sinusoidal Endothelial Cells.

Adv Sci (Weinh) 2020 Oct 21;7(19):2000963. Epub 2020 Aug 21.

State Key Laboratory of Genetic Engineering and School of Life Sciences Human Phenome Institute Fudan University Shanghai 200433 China.

It has been reported that Cavin1 deficiency causes lipodystrophy in both humans and mice by affecting lipid metabolism. The ablation of Cavin1 in rodents also causes a significant deviation from Mendelian ratio at weaning in a background-dependent manner, suggesting the presence of undiscovered functions of Cavin1. In the current study, the results show that Cavin1 deficiency causes neonatal death in C57BL/6J mice by dampening the storage and mobilization of glycogen in the liver, which leads to lethal neonatal hypoglycemia. Read More

View Article and Full-Text PDF
October 2020

Eating behaviour in contrasting adiposity phenotypes: Monogenic obesity and congenital generalized lipodystrophy.

Obes Rev 2021 01 2;22(1):e13114. Epub 2020 Aug 2.

Department of Nutrition, Diabetes and Metabolism, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.

Most known types of nonsyndromic monogenic obesity are caused by rare mutations in genes of the leptin-melanocortin pathway controlling appetite and adiposity. In contrast, congenital generalized lipodystrophy represents the most extreme form of leanness in humans caused by recessive mutations in four genes involved in phospholipid/triglyceride synthesis and lipid droplet/caveolae structure. In this disease, the inability to store triglyceride in adipocytes results in hypoleptinemia and ectopic hepatic and muscle fat accumulation leading to fatty liver, hypertriglyceridemia and severe insulin resistance. Read More

View Article and Full-Text PDF
January 2021

[Recognize rare diseases by the adipose tissue : Lipodystrophy-actually simple but nevertheless often overlooked].

Internist (Berl) 2020 Oct;61(10):1063-1075

Zentrum für Seltene Endokrine Erkrankungen (ZSEE), Sektion Pädiatrische Endokrinologie und Diabetologie, Universitätsklinik für Kinder- und Jugendmedizin, Universitätsklinikum Ulm, Eythstr. 24, 89075, Ulm, Deutschland.

Lipodystrophy (LD) syndromes are a group of rare and heterogeneous diseases characterized by a congenital deficiency or acquired loss of adipose tissue. Due to the resulting disorder of metabolism, sometimes severe sequelae can develop, such as hypertriglyceridemia, marked insulin resistance and early manifestation of type 2 diabetes, recurrent pancreatitis, fatty liver disease and liver fibrosis. Lipodystrophies are clinically recognizable due to the complete lack of subcutaneous adipose tissue or a conspicuous pattern of the distribution of body fat. Read More

View Article and Full-Text PDF
October 2020

[Identification of a novel AGPAT2 variant in a Chinese patient with congenital generalized lipodystrophy type 1].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Oct;37(10):1158-1161

Department of Endocrinology, Children's Hospital Affiliated to Capital Institute of Pediatrics, Beijing 100020, China.

Objective: To explore the genetic basis for an infant with congenital generalized lipodystrophy.

Methods: Peripheral blood samples of the child and her parents were collected for the extraction of genomic DNA. All exons and flanking sequences of the AGPAT2 gene were subjected to Sanger sequencing. Read More

View Article and Full-Text PDF
October 2020

Magnetic resonance spectroscopy to assess hepatic steatosis in patients with lipodystrophy.

Turk J Gastroenterol 2020 08;31(8):588-595

Division of Endocrinology, Dokuz Eylül University School of Medicine, İzmir, Turkey.

Background/aims: Lipodystrophy is a rare metabolic disorder characterized by near total or partial lack of subcutaneous adipose tissue and associated with insulin resistance. We aimed to evaluate the efficacy of magnetic resonance spectroscopy imaging (MRS) to explore the fat content of the liver in patients with lipodystrophy and to determine the relationship between the liver fat accumulation and clinical presentations of lipodystrophy.

Materials And Methods: Between July 2014 and February 2016, 34 patients with lipodystrophy were assessed by MRS for quantification of hepatic steatosis. Read More

View Article and Full-Text PDF

Targeted massively parallel sequencing for congenital generalized lipodystrophy.

Arch Endocrinol Metab 2020 Aug 28. Epub 2020 Aug 28.

Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.

Objective: Our aim is to establish genetic diagnosis of congenital generalized lipodystrophy (CGL) using targeted massively parallel sequencing (MPS), also known as next-generation sequencing (NGS).

Subjects And Methods: Nine unrelated individuals with a clinical diagnosis of CGL were recruited. We used a customized panel to capture genes related to genetic lipodystrophies. Read More

View Article and Full-Text PDF

Absence of AGPAT2 impairs brown adipogenesis, increases IFN stimulated gene expression and alters mitochondrial morphology.

Metabolism 2020 10 15;111:154341. Epub 2020 Aug 15.

Department of Nutrition, Diabetes and Metabolism, School of Medicine, Pontificia Universidad Católica de Chile, Santiago 8330024, Chile. Electronic address:

Background: Biallelic loss of function variants in AGPAT2, encoding 1-acylglycerol-3-phosphate O-acyltransferase 2, cause congenital generalized lipodystrophy type 1, a disease characterized by near total loss of white adipose tissue and metabolic complications. Agpat2 deficient (Agpat2) mice completely lacks both white and interscapular brown adipose tissue (iBAT). The objective of the present study was to characterize the effects of AGPAT2 deficiency in brown adipocyte differentiation. Read More

View Article and Full-Text PDF
October 2020

[Multiple subcutaneous nodules for 46 days in an infant aged 66 days].

Zhongguo Dang Dai Er Ke Za Zhi 2020 Aug;22(8):903-908

Department of Pediatrics, Xiangya Hospital, Central South University, Changsha 410008, China.

A boy, aged 66 days, was admitted to the hospital due to subcutaneous nodules for 46 days and abdominal distension for 10 days. The main clinical manifestations were loss of adipose tissue, subcutaneous nodules, insulin-resistant diabetes, hypertriglyceridemia, and hepatic steatosis. The boy was diagnosed with congenital generalized lipodystrophy type 1 (CGL1). Read More

View Article and Full-Text PDF

Homozygous p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy.

Clin Diabetes Endocrinol 2020 14;6:13. Epub 2020 Jul 14.

Division of Metabolism, Endocrinology and Diabetes (MEND), Department of Internal Medicine, University of Michigan, Ann Arbor, MI USA.

Background: Classical heterozygous pathogenic variants of the lamin A/C () gene cause autosomal dominant familial partial lipodystrophy type 2 (FPLD2). However, recent reports indicate phenotypic heterogeneity among carriers of pathogenic variants, and a few patients have been associated with generalized fat loss.

Case Presentation: Here, we report a patient with a lamin A specific pathogenic variant in exon 11, denoted (c. Read More

View Article and Full-Text PDF

Berardinelli-Seip Syndrome and Essential Thrombocytosis: An Unusual Association.

Oman Med J 2020 May 30;35(3):e135. Epub 2020 Jun 30.

Department of Internal Medicine, Endocrine Division, King Hussein Medical Centre, Amman, Jordan.

Congenital generalized lipodystrophy (Berardinelli-Seip syndrome) is an autosomal recessive condition, presenting during infancy with generalized loss of fat. We report a 30-year-old female patient with diabetes who has acromegaloid features, prominent umbilicus, prominent muscles, prominent subcutaneous veins, and gross hepatomegaly. Near-total loss of subcutaneous fat was confirmed by whole-body magnetic resonance imaging and laboratory data revealed significant hypertriglyceridemia, uncontrolled diabetes mellitus, and heavy proteinuria with stage IIIa chronic kidney disease. Read More

View Article and Full-Text PDF


AACE Clin Case Rep 2020 Mar-Apr;6(2):e79-e85. Epub 2020 Mar 4.

Objective: Lipodystrophy represents a group of rare diseases characterized by loss of body fat. While patients with generalized lipodystrophy exhibit near-total lack of fat, partial lipodystrophy is associated with selective fat loss affecting certain parts of the body. Although classical familial partial lipodystrophy (FPLD) is a well-described entity, recent reports indicate phenotypic heterogeneity among carriers of pathogenic variants. Read More

View Article and Full-Text PDF


AACE Clin Case Rep 2020 Jan-Feb;6(1):e40-e45. Epub 2020 Jan 3.

Objective: To describe an unusual immune-related adverse event (irAE), acquired generalized lipodystrophy (AGL), from checkpoint inhibitor therapy in a patient treated with pembrolizumab.

Methods: This is a case report of a 67-year-old male with metastatic melanoma who was treated with pembrolizumab. Prior to pembrolizumab, the patient was treated with another immune-checkpoint inhibitor and developed autoimmune hemolytic anemia. Read More

View Article and Full-Text PDF
January 2020