A 7-year-old girl with hypertrophic cardiomyopathy and progressive scoliosis
Document Type
Article
Department
Paediatrics and Child Health
Abstract
We report a 7 year old girl who was evaluated for progressive thoracolumbar scoliosis and hypertrophic cardiomyopathy. Neurological examination was found to be abnormal and significant for absent reflexes and weakness distally in lower extremities and positive Romberg sign. Electromyogram showed length-dependent, axonal, sensorimotor polyneuropathy. Frataxin levels were low at 3ng/mL. Molecular testing for Friedreich ataxia showed significantly expanded GAA repeats at 799 (abnormal >67 GAA repeats) on one allele and a heterozygous disease causing mutation, c.317T>C (p.Leu106Ser) on the other allele, confirming the diagnosis. A review of Friedreich ataxia is provided in the case report.
Publication (Name of Journal)
Seminars in Pediatric Neurology
Recommended Citation
Dhamija, R.,
Kirmani, S.
(2014). A 7-year-old girl with hypertrophic cardiomyopathy and progressive scoliosis. Seminars in Pediatric Neurology, 21(2), 67-71.
Available at:
https://ecommons.aku.edu/pakistan_fhs_mc_women_childhealth_paediatr/225