No abstract available.
Lipodystrophy, Congenital Generalized*

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). His condition was improved after administration of middle-chain fatty acid formula milk and insulin injection or oral metformin. Gene testing revealed a homozygous mutation, c.646A>T, in the AGPAT2 gene, and both his parents were carriers of this mutation. This case of CGL1 has the youngest age of onset ever reported in China and multiple subcutaneous nodules as the initial symptom.
Adipose Tissue ; China ; Fatty Liver ; Humans ; Infant ; Insulin Resistance ; Lipodystrophy ; Lipodystrophy, Congenital Generalized ; Male

Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) gene is known to be associated with different clinical phenotypes; Silver syndrome, Charcot-Marie-Tooth type 2 with a dominant hand involvement and distal hereditary motor neuropathy type V (dHMN-V). Up to now, only two heterozygous mutations (N88S and S90L) in BSCL2 have been reported. We identified a N88S BSCL2 mutation in a dHMN-V family with a spastic gait by whole-exome sequencing. To our knowledge, this is the first report of a N88S BSCL2 mutation in Korean patient.
Exome ; Gait Disorders, Neurologic ; Hand ; Humans ; Lipodystrophy, Congenital Generalized ; Silver ; Spastic Paraplegia, Hereditary

Generalized lipodyst,rophy is characterized by generalized loss of body fat, and is asociated vith metabolic ahnormalities, including insulin resistance, hyperglycemia., and hypertriglyceridemia. like acanthosis nigricans, generalized lipodystrophy is a cutaneous marker of insulin re.istant diabetes. We report. herein a twenty year old female witti both classic generalized lipodystripin and acanthosis nigricans, in association with insulin resistant diabetes.
Acanthosis Nigricans ; Adipose Tissue ; Female ; Humans ; Hyperglycemia ; Hypertriglyceridemia ; Insulin ; Insulin Resistance ; Lipodystrophy, Congenital Generalized*

A girl, aged 1 year and 9 months, was found to have hypertriglyceridemia in the neonatal period, with unusual facies and signs of dark skin all over the body, disappearance of subcutaneous adipose, acanthosis nigricans of the neck, excessive and thick hair, empty cheeks, muscle hypertrophy of the extremities, hepatomegaly, and neutrophil deficiency. Whole exome sequencing of monogenic disorder revealed a homozygote mutation in the BSCL2 gene, c.974 (exon 7)_c.975 (exon 7) insG. Her parents were heterozygotes for this locus. The girl was diagnosed with congenital generalized lipodystrophy (CGL), but the association between CGL and neutrophil deficiency remained unclear. Triglyceride was maintained at a normal level after the treatment with a low-fat and high-carbohydrate diet, and there were no obvious changes in signs. CGL is a rare autosomal recessive systemic disease manifested as disappearance of systemic subcutaneous adipose, muscle hypertrophy of the extremities, and metabolic disorders in the neonatal period, such as high triglycerides, hyperinsulinemia, and hyperglycemia. About 95% of CGL cases are caused by mutations in the AGPAT2 or BSCL2 gene.
Facies ; Female ; GTP-Binding Protein gamma Subunits ; Humans ; Hypertriglyceridemia ; Infant ; Lipodystrophy, Congenital Generalized

Congenital lipodystrophic diabetes (CLD) is a rare genetic disease characterized by generalized or topical subcutaneous fat loss combined with various metabolic disorders such as insulin resistance, dyslipidemia, and impaired glucose tolerance. Recent studies have discovered genes underlying the disease. Mutations of such genes are associated with adipogenic anomaly, especially regulational function of peroxisome proliferators-activated receptor γ (γPPAR) for lipid. This paper has provided a review for the main clinical symptoms, classification, pathogenic genes, molecular mechanism and the relationship between PPARγ and fat loss.
Cell Differentiation ; Diabetes Mellitus ; genetics ; Humans ; Insulin Resistance ; Lipodystrophy, Congenital Generalized ; genetics ; PPAR gamma ; genetics ; Transcription Factors