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Edalatkhah, R., Baghbanian, M. (2022). A Patient with Congenital Generalized Lipodystrophy. Shahid Sadoughi University of Medical Sciences- Journal Management System, 5(1), 40-44. doi: 10.18502/wjpn.v5i1.10127
Roohollah Edalatkhah; Mahmud Baghbanian. "A Patient with Congenital Generalized Lipodystrophy". Shahid Sadoughi University of Medical Sciences- Journal Management System, 5, 1, 2022, 40-44. doi: 10.18502/wjpn.v5i1.10127
Edalatkhah, R., Baghbanian, M. (2022). 'A Patient with Congenital Generalized Lipodystrophy', Shahid Sadoughi University of Medical Sciences- Journal Management System, 5(1), pp. 40-44. doi: 10.18502/wjpn.v5i1.10127
Edalatkhah, R., Baghbanian, M. A Patient with Congenital Generalized Lipodystrophy. Shahid Sadoughi University of Medical Sciences- Journal Management System, 2022; 5(1): 40-44. doi: 10.18502/wjpn.v5i1.10127

A Patient with Congenital Generalized Lipodystrophy

World Journal of Peri and Neonatology
Article 7, Volume 5, Issue 1, July 2022, Pages 40-44    PDF (400.01 K)
Document Type: Case Report
DOI: 10.18502/wjpn.v5i1.10127
Authors
Roohollah Edalatkhah1; Mahmud Baghbanian* 2
1Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
2Department of Gastroenterology, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Abstract
Background: Congenital generalized lipodystrophy (CGL) presents during the first two years of life. It is a rare autosomal recessive inherited disease with loss of cutaneous fat and various complaints and complications such as diabetes mellitus, hypertriglyceridaemia and hepatic steatosis.
Case Report: A patient was hospitalized with abdominal distention, weight loss, irritability, and pruritus. Massive hepatomegaly, huge splenomegaly, multiple significant lymphadenopathies, hypertrichosis, generalized subcutaneous fat loss with bird-faced, increased musculature, and prominent superficial veins were detected on examination. In paraclinical evaluation, hyperlipidemia and severe liver fibrosis (grade 5) were diagnosed, and she was discharged as a case of congenital generalized lipodystrophy.
Conclusion: In an approach to a child with hepatosplenomegaly, lipodystrophy should be in mind.
Keywords
Autosomal recessive; Hepatomegaly; Lipodystrophy; Lymphadenopathy
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