Paper Information

Journal:   INTERNATIONAL JOURNAL OF PEDIATRICS   February 2017 , Volume 5 , Number 2 (38); Page(s) 4275 To 4284.
 
Paper: 

Congenital Generalized Lipodystrophy in a Youth Presented with Sclerotic and Lytic Bone Lesions; a Family with AGPAT2 Mutation

 
 
Author(s):  HASANI RANJBAR SHIRIN*, SOLTANI AKBAR, Hadavi Marzieh, EJTAHED HANIEH SADAT, MOHAMMAD AMOLI MAHSA*, RADMARD AMIR REZA
 
* Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran 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.
 
Keyword(s): AGPAT2 mutation,Congenital generalized lipodystrophy,Cystic bone lesions
 
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