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

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HASANI RANJBAR SHIRIN; SOLTANI AKBAR; Hadavi Marzieh; EJTAHED HANIEH SADAT; MOHAMMAD AMOLI MAHSA; RADMARD AMIR REZA

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Journal: Journal of Pediatric Perspectives Year:2017 | Volume:5 | Issue:2 (38) Page(s): 4275-4284

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Title

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

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Keywords

AGPAT2 mutation

Congenital generalized lipodystrophy

Cystic bone lesions

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.

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APA: Copy

HASANI RANJBAR, SHIRIN, SOLTANI, AKBAR, Hadavi, Marzieh, EJTAHED, HANIEH SADAT, MOHAMMAD AMOLI, MAHSA, & 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 (38)), 4275-4284. SID. https://sid.ir/paper/337877/en

Vancouver: Copy

HASANI RANJBAR SHIRIN, SOLTANI AKBAR, Hadavi Marzieh, EJTAHED HANIEH SADAT, MOHAMMAD AMOLI MAHSA, RADMARD AMIR REZA. Congenital Generalized Lipodystrophy in a Youth Presented with Sclerotic and Lytic Bone Lesions; a Family with AGPAT2 Mutation. INTERNATIONAL JOURNAL OF PEDIATRICS[Internet]. 2017;5(2 (38)):4275-4284. Available from: https://sid.ir/paper/337877/en

IEEE: Copy

SHIRIN HASANI RANJBAR, AKBAR SOLTANI, Marzieh Hadavi, HANIEH SADAT EJTAHED, MAHSA MOHAMMAD AMOLI, and AMIR REZA RADMARD, “Congenital Generalized Lipodystrophy in a Youth Presented with Sclerotic and Lytic Bone Lesions; a Family with AGPAT2 Mutation,” INTERNATIONAL JOURNAL OF PEDIATRICS, vol. 5, no. 2 (38), pp. 4275–4284, 2017, [Online]. Available: https://sid.ir/paper/337877/en

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