Rai-Hseng Hsu1, Wei-De Lin2, Mei-Chyn Chao3, Hui-Pin Hsiao4, Siew-Lee Wong5, Pao-Chin Chiu6, Shao-Yin Chu7, Yu-Yuan Ke8, Beng-Huat Lau9, Yin-Hsiu Chien1, Wuh-Liang Hwu1, Fuu-Jen Tsai10, Chung-Hsing Wang11, Ni-Chung Lee12. 1. Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan. 2. Department of Medical Research, China Medical University Hospital, Taichung, Taiwan; School of Post Baccalaureate Chinese Medicine, China Medical University, Taichung, Taiwan. 3. Division of Pediatric Genetics, Changhua Christian Children's Hospital, Changhua, Taiwan; Division of Genetics, Endocrinology and Metabolism, Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan. 4. Division of Genetics, Endocrinology and Metabolism, Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan. 5. Department of Pediatrics, Chiayi Christian Hospital, Chiayi, Taiwan. 6. Department of Pediatrics, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan; National Yang Ming University, Taiwan. 7. Department of Pediatrics, Buddhist Tzu-Chi General Hospital, Hualien, Taiwan. 8. Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan. 9. Department of Pediatrics, Shin Kong Wu Ho-Su Memorial Hospital, Taipei, Taiwan. 10. Department of Pediatrics, Children's Hospital, China Medical University, Taichung, Taiwan; School of Chinese Medicine, China Medical University, Taichung, Taiwan. 11. Department of Pediatrics, Children's Hospital, China Medical University, Taichung, Taiwan; School of Medicine, China Medical University, Taichung, Taiwan. 12. Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan. Electronic address: ncleentu@ntu.edu.tw.
Abstract
BACKGROUND: 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. METHODS: Patients diagnosed with CGL from 8 medical centers were reviewed. The initial presentation, laboratory findings, and molecular testing were retrospectively analyzed. RESULTS: 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 patients were administered combination therapy, and 5 patients received no treatment. Three patients (19%) who developed diabetes mellitus received both oral hypoglycemic agents and insulin. Three patients (19%) experienced loss of ambulation and died prematurely. CONCLUSION: Our findings highlight the uniqueness of the genotype and phenotype in our cohort. Further long-term surveillance for comorbidities is necessary for early detection and management of these patients.
BACKGROUND: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. METHODS:Patients diagnosed with CGL from 8 medical centers were reviewed. The initial presentation, laboratory findings, and molecular testing were retrospectively analyzed. RESULTS: 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 patients were administered combination therapy, and 5 patients received no treatment. Three patients (19%) who developed diabetes mellitus received both oral hypoglycemic agents and insulin. Three patients (19%) experienced loss of ambulation and died prematurely. CONCLUSION: Our findings highlight the uniqueness of the genotype and phenotype in our cohort. Further long-term surveillance for comorbidities is necessary for early detection and management of these patients.
Authors: Josivan Gomes Lima; Lucia Helena C Nobrega; Natalia Nobrega Lima; Marcel Catão Ferreira Dos Santos; Pedro Henrique Dantas Silva; Maria de Fatima P Baracho; Debora Nobrega Lima; Julliane Tamara Araújo de Melo Campos; Leonardo Capistrano Ferreira; Francisco Paulo Freire Neto; Carolina de O Mendes-Aguiar; Selma Maria B Jeronimo Journal: PLoS One Date: 2018-06-08 Impact factor: 3.240