Case 3: Gait Instability and Elevated Troponin Level in a 16-year-old Boy

Carrie Johnson, Shaun Mohan; Pediatrics in Review Feb 2019, 40 (2) 85-87; DOI: 10.1542/pir.2017-0095

Given the findings of hypertrophic cardiomyopathy, ataxia, and abnormal neurologic examination findings, there was suspicion for Friedreich ataxia (FRDA). Genetics was consulted, who agreed, and recommended repeated expansion analysis. During follow-up his genetic testing results were positive for 2 alleles with GAA trinucleotide repeat expansion: allele 1 with 1070 GAA repeats and allele 2 with 830 GAA repeats, consistent with diagnosis of FRDA.