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CASE REPORT
Kearns-Sayre syndrome presenting as isolated growth failure
  1. Conisha Mone Holloman1,2,
  2. Lynne A Wolfe1,
  3. William A Gahl1,
  4. Cornelius F Boerkoel1
  1. 1Undiagnosed Diseases Program, Office of the Director and NHGRI, NIH, Bethesda, Maryland, USA
  2. 2University of Rochester School of Medicine and Dentistry, Rochester, New York, USA
  1. Correspondence to Dr Cornelius F Boerkoel, boerkoelcf{at}mail.nih.gov

Summary

Failure to thrive arises from a heterogeneous group of paediatric disorders including defects in energy metabolism such as mitochondrial diseases. Illustrating this, we describe a girl with poor growth who eluded diagnosis until she developed characteristics of Kearns-Sayre syndrome. Her history emphasises that defects of energy metabolism can present as isolated growth failure.

https://doi.org/10.1136/bcr-2012-007272

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