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

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Year: 2017
COI code: JR_INJPM-5-2_002
Paper Language: English

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

  Shirin Hasani-Ranjbar - Obesity and Eating Habits Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
  Akbar Soltani - Endocrinology and Metabolism Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
  Marzieh Hadavi - Endocrinology and Metabolism Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
  Hanieh-Sadat Ejtahed - Obesity and Eating Habits Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.

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.

Keywords:

AGPAT2 mutation, Congenital generalized lipodystrophy, Cystic bone lesions

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Hasani-Ranjbar, Shirin; Akbar Soltani; Marzieh Hadavi & Hanieh-Sadat Ejtahed, 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), https://www.civilica.com/Paper-JR_INJPM-JR_INJPM-5-2_002.htmlInside the text, wherever referred to or an achievement of this article is mentioned, after mentioning the article, inside the parental, the following specifications are written.
First Time: (Hasani-Ranjbar, Shirin; Akbar Soltani; Marzieh Hadavi & Hanieh-Sadat Ejtahed, 2017)
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Type: Medical University
Paper No.: 6409
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