Congenital generalized lipodystrophy in Taiwan.
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.
['Hsu|Rai-Hseng|RH|', 'Lin|Wei-De|WD|', 'Chao|Mei-Chyn|MC|', 'Hsiao|Hui-Pin|HP|', 'Wong|Siew-Lee|SL|', 'Chiu|Pao-Chin|PC|', 'Chu|Shao-Yin|SY|', 'Ke|Yu-Yuan|YY|', 'Lau|Beng-Huat|BH|', 'Chien|Yin-Hsiu|YH|', 'Hwu|Wuh-Liang|WL|', 'Tsai|Fuu-Jen|FJ|', 'Wang|Chung-Hsing|CH|', 'Lee|Ni-Chung|NC|']
D000052:Acanthosis Nigricans D000293:Adolescent D044466:Asians D006332:Cardiomegaly D002648:Child D002675:Child, Preschool D005260:Female D044388:GTP-Binding Protein gamma Subunits D005838:Genotype D006801:Humans D007223:Infant D052497:Lipodystrophy, Congenital Generalized D008297:Male D009154:Mutation D010641:Phenotype D012189:Retrospective Studies D013624:Taiwan
Congenital generalized lipodystrophy Morbidity Outcome