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An incidental finding of striking muscular hypertrophy leading to a diagnosis of Berardinelli Seip Congenital Lipodystrophy
  1. Gayle Hann1,
  2. Abdul Salam2,
  3. Piyusha Kapila1
  1. 1Department of Paediatrics, North Middlesex University Hospital NHS Trust, London, UK
  2. 2Royal London Hospital, Barts Health NHS trust, London, UK
  1. Correspondence to Dr Gayle Hann, Department of Paediatrics, North Middlesex University Hospital NHS Trust, Sterling Way, London N191QX, UK; gaylehann{at}yahoo.com

https://doi.org/10.1136/archdischild-2013-303691

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    An 8-month-old girl was seen in the paediatric emergency department with a short history of high fever and cough. A diagnosis of upper respiratory tract infection was quickly established. However, on examination, she was noted to have marked loss of subcutaneous fat with striking muscular hypertrophy and acromegaloid facial features. There was also distinct acanthosis nigricans. Blood …

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    Footnotes

    • Contributors All authors have contributed equally to this article and have approved its content.

    • Competing interests None.

    • Provenance and peer review Not commissioned; internally peer reviewed.