Author/Authors :
Hasani-Ranjbar, Shirin Obesity and Eating Habits Research Center - Endocrinology and Metabolism Molecular-Cellular Sciences Institute - Tehran University of Medical Sciences, Iran , Soltani, Akbar Endocrinology and Metabolism Research Center - Endocrinology and Metabolism Clinical Sciences Institute - Tehran University of Medical Sciences, Iran , Hadavi, Marzieh Endocrinology and Metabolism Research Center - Endocrinology and Metabolism Clinical Sciences Institute - Tehran University of Medical Sciences, Iran , Ejtahed, Hanieh-Sadat Obesity and Eating Habits Research Center - Endocrinology and Metabolism Molecular-Cellular Sciences Institute - Tehran University of Medical Sciences, Iran , Amoli, Mohammad Metabolic Disorders Research Center - Endocrinology and Metabolism Molecular-Cellular Sciences Institute - Tehran University of Medical Sciences, Iran , Radmard, Amir Reza Department of Radiology - Shariati Hospital, University of Medical Sciences, Tehran, Iran
Abstract :
Background
Congenital generalized lipodystrophy (CGL) is a rare disease. It is associated with near total fat loss,
severe insulin resistance and hypoleptinemia leading to metabolic derangements.
Case Presentation
We report a 25- year- old female with 1-Acylglycerol-3-phosphate-O-acyltransferase 2 (APGAT2)
mutation, and both sclerotic and lytic bone lesions together for the first time. Bone cyst is one of the
manifestations of CGL with AGPAT2 mutation. Patients usually have sclerotic bone lesions before and
lytic bone lesions after puberty. Our patient had lytic bone lesions in (femur) long bones and also
sclerotic lesions in the pelvic which was related to AGPAT2 mutation.
Conclusion
The young female had acral enlargement, hepatomegaly and both sclerotic and cystic bone lesions with
AGPAT2 mutation.
