Child Neurology: Friedreich ataxia with upper motor neuron findings

Elizabeth A. Harvey, Kimberly S. Jones; Neurology Aug 2018, 91 (9) 426-428; DOI: 10.1212/WNL.0000000000006086

A 16-year-old boy with hypertrophic cardiomyopathy, gait abnormalities, and balance problems was found to have Friedreich ataxia. Though Friedreich ataxia typically renders patients areflexic, this child had upper motor neuron findings of spasticity in both lower extremities, with crossed adductors, and 4+ deep tendon reflexes at the patella and Achilles bilaterally. This unusual presentation of an uncommon genetic disorder led to uncertainty of the patient's true diagnosis until genetic testing confirmed that he had 2 alleles with the Friedreich ataxia mutation.