Congenital Generalized Lipodystrophy in a Youth Presented With Sclerotic and Lytic Bone Lesions; a Family With Agpat2 Mutation

Congenital Generalized Lipodystrophy in a Youth Presented With Sclerotic and Lytic Bone Lesions; a Family With Agpat2 Mutation Publisher

Hasaniranjbar S¹ ; Soltani A² ; Hadavi M² ; Ejtahed HS¹ ; Mohammadamoli M³ ; Radmard AR⁴

Show Affiliations

1. Obesity and Eating Habits Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran
2. Endocrinology and Metabolism Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran
3. Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran
4. Department of Radiology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran

Source: International Journal of Pediatrics Published:2017

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.

Style	Citing Format
MLA	Hasaniranjbar S, et al.. "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, 2017, pp. 4275-4284.
APA	Hasaniranjbar S, Soltani A, Hadavi M, Ejtahed HS, Mohammadamoli M, Radmard AR (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), 4275-4284.
Chicago	Hasaniranjbar S, Soltani A, Hadavi M, Ejtahed HS, Mohammadamoli M, Radmard AR. "Congenital Generalized Lipodystrophy in a Youth Presented With Sclerotic and Lytic Bone Lesions; a Family With Agpat2 Mutation." International Journal of Pediatrics 5, no. 2 (2017): 4275-4284.
Harvard	Hasaniranjbar S et al. (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.
Vancouver	Hasaniranjbar S, Soltani A, Hadavi M, Ejtahed HS, Mohammadamoli M, Radmard AR. Congenital Generalized Lipodystrophy in a Youth Presented With Sclerotic and Lytic Bone Lesions; a Family With Agpat2 Mutation. International Journal of Pediatrics. 2017;5(2):4275-4284.
BibTex	@article{ author = {Hasaniranjbar S and Soltani A and Hadavi M and Ejtahed HS and Mohammadamoli M and Radmard AR}, title = {Congenital Generalized Lipodystrophy in a Youth Presented With Sclerotic and Lytic Bone Lesions; a Family With Agpat2 Mutation}, journal = {International Journal of Pediatrics}, volume = {5}, number = {2}, pages = {4275-4284}, year = {2017} }
RIS	TY - JOUR AU - Hasaniranjbar S AU - Soltani A AU - Hadavi M AU - Ejtahed HS AU - Mohammadamoli M AU - Radmard AR TI - Congenital Generalized Lipodystrophy in a Youth Presented With Sclerotic and Lytic Bone Lesions; a Family With Agpat2 Mutation JO - International Journal of Pediatrics VL - 5 IS - 2 SP - 4275 EP - 4284 PY - 2017 ER -

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