Congenital generalized lipodystrophy in Taiwan

Journal of the Formosan Medical Association = Taiwan Yi Zhi
Rai-Hseng HsuNi-Chung Lee

Abstract

Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by scarce adipose tissue. This disease is distributed worldwide, but little is known about these patients in the Chinese population. Here, we delineate the phenotype and prognosis of CGL in our cohort. Patients diagnosed with CGL from 8 medical centers were reviewed. The initial presentation, laboratory findings, and molecular testing were retrospectively analyzed. A total of 16 patients were analyzed, and the current median age was 3.5 years (range, 9 months-17.5 years). In all patients, molecular results confirmed BSCL2 mutation. c.782dupG (p.Ile262Hisfs*12) was the most common genotype identified. All patients had triangular faces and muscular hypertrophy. In addition, 75% presented with hepatomegaly, 19% had cardiomegaly, and 44% exhibited acanthosis nigricans. Developmental delay was noted in 5 out of 9 patients (56%) with a median developmental quotient (DQ)/intelligence quotient (IQ) of 61. Thirteen patients (81.3%) had high triglyceride levels. Eight patients received leptin analysis, and 7 of them (88%) had low leptin levels. One patient exclusively received a lipid-lowering drug, 4 patients were exclusively placed on a fat-restricted diet, 5 p...Continue Reading

Citations

Jun 9, 2018·PloS One·Josivan Gomes LimaSelma Maria B Jeronimo
Mar 14, 2021·Biochimica Et Biophysica Acta. Molecular Basis of Disease·Julliane Tamara Araújo de Melo CamposJosivan Gomes Lima
Sep 29, 2019·GE Portuguese Journal of Gastroenterology·Andreia RibeiroErmelinda Santos Silva

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