Berardinelli Seip Syndrome: A rare case report Authors Samreen Ashraf Department of Pediatric Medicine, The Children’s Hospital and Institute of Child Health, Lahore, Pakistan Shadab Masood Department of Pediatric Medicine, The Children’s Hospital and Institute of Child Health, Lahore, Pakistan Farrah Naz Department of Pediatric Medicine, The Children’s Hospital and Institute of Child Health, Lahore, Pakistan Junaid Rashid Department of Pediatric Medicine, The Children’s Hospital and Institute of Child Health, Lahore, Pakistan DOI: https://doi.org/10.47391/JPMA.3182 Abstract Berardinelli Seip Congenital Lipodystrophy (BSCL) or Congenital Generalized Lipodystrophy (CGL) is one of the four subgroups of lipodystrophy syndrome which is characterized by varying degrees of loss of adipose mass in the body. It is an extremely rare autosomal recessive disorder and commonly reported clinical presentations include muscular hypertrophy, gigantism, hepatomegaly, impaired glucose tolerance, acanthosis nigricans, hypertriglyceridaemia, cardiomyopathy, intellectual impairment, bone cysts and phlebomegaly. We present a case of a 4.5 years old male child born to consanguineous parents. He presented with the right lung consolidation and pancytopenia with a normal bone marrow biopsy, which was resolved with intravenous antibiotics. He had acromegaly-like features, hirsutism, history of recurrent diarrhoea and chest infections with isolated IgA deficiency, firm hepatomegaly, a well-defined bone cyst in the proximal right femur and hypertriglyceridaemia. This is the first case of BSCL, reported in Pakistan with a bone cyst and IgA deficiency. ---Continue Author Biographies Samreen Ashraf, Department of Pediatric Medicine, The Children’s Hospital and Institute of Child Health, Lahore, Pakistan Senior Registrar Department of Pediatric Medicine, The Children’s Hospital and Institute of Child Health, Lahore, Pakistan Shadab Masood, Department of Pediatric Medicine, The Children’s Hospital and Institute of Child Health, Lahore, Pakistan Senior Registrar Department of Pediatric Medicine, The Children’s Hospital and Institute of Child Health, Lahore, Pakistan Farrah Naz, Department of Pediatric Medicine, The Children’s Hospital and Institute of Child Health, Lahore, Pakistan Associate Professor Department of Pediatric Medicine, The Children’s Hospital and Institute of Child Health, Lahore, Pakistan Junaid Rashid, Department of Pediatric Medicine, The Children’s Hospital and Institute of Child Health, Lahore, Pakistan Professor and Head Department of Pediatric Medicine, The Children’s Hospital and Institute of Child Health, Lahore, Pakistan Downloads Full Text Article Published 2022-05-10 How to Cite Samreen Ashraf, Shadab Masood, Farrah Naz, & Junaid Rashid. (2022). Berardinelli Seip Syndrome: A rare case report. Journal of the Pakistan Medical Association, 72(5), 969–971. https://doi.org/10.47391/JPMA.3182 More Citation Formats ACM ACS APA ABNT Chicago Harvard IEEE MLA Turabian Vancouver Download Citation Endnote/Zotero/Mendeley (RIS) BibTeX Issue Vol. 72 No. 5 (2022): MAY Section CASE REPORT