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

Hasani-Ranjbar, Shirin and Soltani, Akbar and Hadavi, Marzieh and Ejtahed, Hanieh-Sadat and Mohammad-Amoli, Mahsa and Radmard, Amir Reza (2017) Congenital Generalized Lipodystrophy in a Youth Presented with Sclerotic and Lytic Bone Lesions; a Family with AGPAT2 Mutation. International Journal of Pediatrics, 5 (2). pp. 4275-4284.

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Abstract

BackgroundCongenital 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 PresentationWe 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.ConclusionThe young female hadacral enlargement, hepatomegaly and both sclerotic and cystic bone lesions with AGPAT2 mutation.

Item Type: Article
Subjects: WA Public Health
WS Pediatrics
Divisions: Journals > International J Pediatrics
Depositing User: IJP IJP
Date Deposited: 24 Sep 2017 21:02
Last Modified: 24 Sep 2017 21:02
URI: http://eprints.mums.ac.ir/id/eprint/3732

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