Congenital Lipodystrophy: A Case Series Report from Cameroon  

作　　者：Suzanne Sap Ngo Um[1] Jocelyn Tony[1] Ritha Mbono[1] Yannick Tekel[1] Isabelle Mekone[1] Mesmin Dehayem[1] Koki Ndombo[1] 

出　　处：《Open Journal of Pediatrics》2020年第1期231-235,共5页儿科学期刊（英文）

摘　　要：Congenital lipodystrophy is a group of rare syndrome characterized by the absence of subcutaneous tissue. Affecting less per million live birth, this condition associate metabolic disturbance including severe insulin resistance and progeroid appearance. Diagnosis may be fortuitous or related to complications as presented in the present case series. Lipodystrophy can be generalized or localized. Acquired lipodystrophy is associated with some drugs like antiretroviral. Thus, the condition is well described in African HIV patients but data on congenital forms from Sub Saharan Africa are sparse, justifying the present report. We present four cases, with peculiar appearance associated with increased blood triglycerides. Two on four of the patients presented diabetes mellitus. Genetic testing was not available, questioning the actual guidelines of diagnosis for our context.Congenital lipodystrophy is a group of rare syndrome characterized by the absence of subcutaneous tissue. Affecting less per million live birth, this condition associate metabolic disturbance including severe insulin resistance and progeroid appearance. Diagnosis may be fortuitous or related to complications as presented in the present case series. Lipodystrophy can be generalized or localized. Acquired lipodystrophy is associated with some drugs like antiretroviral. Thus, the condition is well described in African HIV patients but data on congenital forms from Sub Saharan Africa are sparse, justifying the present report. We present four cases, with peculiar appearance associated with increased blood triglycerides. Two on four of the patients presented diabetes mellitus. Genetic testing was not available, questioning the actual guidelines of diagnosis for our context.

关 键 词：LIPODYSTROPHY DIABETES CHILDREN 

分 类 号：R58[医药卫生—内分泌]