ABSTRACT
Berardinelli-Seip congenital lipodystrophy (BSCL) is a very rare genetic disorder characterized by lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. On the basis of mutational and haplotype analysis, BSCL families have been classified into three types BSCL 1, BSCL2 and BSCLX. We report Berardinelli-Seip congenital lipodystrophy (BSCL2 type) in three subjects from two unrelated Indian families (family1 and family2). The mutation (c.IVS2 11 A GT G ) found in affected members of family1 is a newly identified mutation. We also report the association of renal anomaly with this new mutation.
Subject(s)
Child, Preschool , Diabetes Mellitus, Lipoatrophic/genetics , Diseases in Twins/genetics , GTP-Binding Protein gamma Subunits/genetics , Humans , Infant , Kidney Diseases/genetics , Male , Mutation/genetics , TwinsABSTRACT
Familial Partial Lipodystrophy, Dunnigan type (FPLD), is characterised by loss of subcutaneous fat from the limbs and an excessive accumulation of fat on the neck, shoulder girdle and face. Affected individuals have insulin resistance, dyslipidaemia and early cardiovascular events. Body composition (BC) with details of adipose tissue distribution were studied by Dual-Energy X-ray Absorptiometry (DEXA) and Magnetic Resonance Imaging (MRI) ina heterozygote for the FPLD mutation LMNA R482W, and in an age, sex and body mass index (BMI) matched normal control. DEXA revealed a marked decrease in total as well as regional fat percentage in the patient compared to a normal control. Marked reductions in subcutaneous fat in the extremities with substantial lipodeposition in the nape of the neck were confirmed with. MRI. The importance of increased perinephric, retroperitoneal and intermuscular fat in the thighs found in this patient, needs to be explored vis-à-vis the pathogenesis of insulin resistance found in FPLD.
Subject(s)
Absorptiometry, Photon , Adult , Body Composition , Diabetes Mellitus, Lipoatrophic/pathology , Female , Humans , Magnetic Resonance ImagingABSTRACT
Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near complete absence of adipose tissue since birth and insulin resistance. The diagnosis is made on the basis of lack of body fat, muscular hypertrophy, acanthosis nigricans, hirsutism, hepatomegaly with fatty liver, hyperlipidemia and hyperglycemia with insulin resistance. We describe a 4-year-old Chinese girl with the clinical features of CGL.
Subject(s)
Child, Preschool , China , Diabetes Mellitus, Lipoatrophic/diagnosis , Female , Humans , Hypertriglyceridemia/diet therapyABSTRACT
PURPOSE: To correlate serum leptin and insulin levels, and the glucosic profile of 21 patients shared in diabetics and non diabetics with Congenital Generalized Lipodystrophy (CGL). METHODS: In a prospective study, were dosed serum leptin level with radioimmunoassay technique, fasting plasma glucose through of the glucoseoxidase-peroxidase reaction, the hemoglobin glycate using the technique microchromatography for ionic exchange resin and insulin through immunoassay system. The fructosamine concentration serum was determinated for reduction nitroblue tetrazolium method. The Student's test was used to compare results between the groups and the correlation [quot ]r[quot ] coefficient to analise the relation among the several variants studied, with significant level of 5% (p < 0.05). All the statistical procedures were performed using the Excel by Microsoft and the Statistic program for Windows by StatSoft, Inc. version 5.1 edition 97. RESULTS: Leptin decreased on the most patients, showing no statistically significant difference between the groups. Also there wasn't difference statistically significant (p = 0.9542) of the insulin's value between diabetics and non diabetics. CONCLUSION: The hyperinsulinism and the hypoleptinemia occurred independently of diabetes in the CGL's patients and this can be due to the natural history of disease, in which the raise insulin levels precede the initial diabetes mellitus and the low leptin levels were related to the lipoatrophy.
Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Male , Diabetes Mellitus, Lipoatrophic/blood , Hyperinsulinism/blood , Leptin/blood , Lipodystrophy, Congenital Generalized/blood , Adipose Tissue/metabolism , Blood Glucose , Body Mass Index , Consanguinity , Fructosamine/blood , Glycated Hemoglobin/analysis , Insulin Resistance , Prospective StudiesABSTRACT
OBJETIVO: Apresentar as principais características clínicas e bioquímicas da lipodistrofia generalizada congênita, desordem rara e pouco conhecida dos pediatras. DESCRIÇAO: Nos ambulatórios de Doenças Nutricionais e de Endocrinologia do Serviço de Pediatria do Hospital das Clínicas da UFMG, foram identificados oito pacientes com lipodistrofia generalizada congênita. As características clínicas comuns a todos os casos foram hipertrofia muscular, lipoatrofia generalizada e aparência acromegálica. Manifestações clínico-laboratoriais associadas incluíram acantose nigricans em cinco pacientes, hepatoesplenomegalia em seis, hipertrigliceridemia com baixas concentrações de HDL em sete, hipertrofia cardíaca em um e diabetes melito secundário em dois pacientes. Todos os pacientes estão em controle clínico e dietético, visando à correção ou prevenção dos distúrbios metabólicos. COMENTARIOS: As características fenotípicas da lipodistrofia generalizada congênita são bem identificadas, possibilitando o diagnóstico clínico na maioria dos casos. Trata-se de uma síndrome rara que ilustra a importância do funcionamento normal do tecido adiposo para a maioria dos processos metabólicos vitais do organismo. O seu melhor conhecimento poderá abrir novos horizontes em estudos de doenças mais prevalentes como o diabetes melito e a obesidade.
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Diabetes Mellitus, Lipoatrophic/congenital , Acromegaly/congenital , Acromegaly/diagnosis , Acromegaly/genetics , Diabetes Mellitus, Lipoatrophic/diagnosis , Diabetes Mellitus, Lipoatrophic/genetics , Hypertrophy , Muscles/pathology , SyndromeABSTRACT
Se presenta el caso de una paciente portadora de diabetes lipoatrófica generalizada con éxito reproductivo. Se analiza el tratamiento metabólico y el manejo perinatal. La instalación de infección intraamniótica determinó la interrupción del embarazo a las 28 semanas, con recién nacido de pretérmino adecuado para la edad gestacional, que evolucionó con distrés respiratorio prolongado, hemorragia subaracnoidea y enterocolitis necrotizante. El seguimiento al sexto mes de vida revela examen neurológico normal.
Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Adult , Diabetes Mellitus, Lipoatrophic/complications , Diabetes Mellitus, Lipoatrophic/diagnosis , Diabetes Mellitus, Lipoatrophic/therapy , Pregnancy in Diabetics/metabolism , Infant, Premature , Pregnancy, High-Risk/metabolism , Hypertriglyceridemia/congenital , Hypertriglyceridemia/blood , Hypothyroidism/complications , Hypothyroidism/drug therapySubject(s)
Humans , Male , Adolescent , Lipodystrophy/congenital , Hepatic Insufficiency , Ascites , Diabetes Mellitus, Lipoatrophic/congenitalSubject(s)
Adipose Tissue/pathology , Biopsy , Child, Preschool , Diabetes Mellitus, Lipoatrophic/diagnosis , Hormones/blood , Humans , Male , Muscles/pathologyABSTRACT
A lipoatrofia insulinica contitui uma complicacao cosmetica frequente da insulinoterapia. Suerpreendentemente, a gordura subcutanea das areas lipoatroficas regenera-se com infeccoes intralesionais de insulina, principalmente do tipo monocomponente. O quadro, geralmente, regride apos tres a oito meses de terapia.A experiencia clinica demonstra que a insulina monocomponente representa o recurso de eleicao para o tratamento da lipoatrofia insulinica. O uso da tecnica em nao-diabeticos e relatado na literatura medica.O metodo foi experimentado em dois pacientes com lipoatrofias induzidas por insulina e corticosteroide, respectivamente. Injecoes intralesionais de insulina monocomponente foram aplicadas, subcutaneamente, tres vezes por dia, antes das refeicoes. Os resultados foram excelentes, com total remissao das lesoes