Kearns-Sayre syndrome presenting as isolated growth failure

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Conisha Mone Holloman1, Lynne A Wolfe, William A Gahl

  • 1Undiagnosed Diseases Program, Office of the Director and NHGRI, NIH, Bethesda, Maryland, USA.

BMJ Case Reports
|February 20, 2013
PubMed

Insights

Pediatric failure to thrive can stem from energy metabolism defects, like mitochondrial diseases. One case highlights Kearns-Sayre syndrome presenting initially as isolated growth failure, underscoring diagnostic challenges in metabolic disorders.

Area of Science:

  • Pediatric Endocrinology
  • Mitochondrial Medicine
  • Metabolic Disorders

Background:

  • Failure to thrive (FTT) is a complex pediatric condition with diverse causes.
  • Defects in energy metabolism, including mitochondrial diseases, are recognized contributors to FTT.
  • Early diagnosis of metabolic disorders is crucial for effective management.

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