A Patient with Congenital Generalized Lipodystrophy | ||
| Journal of Integrated Maternal and Pediatric Care | ||
| 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 | ||
| References | ||
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