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.

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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

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

Issue

Section

CASE REPORT