TY - JOUR
T1 - A 7-year-old girl with hypertrophic cardiomyopathy and progressive scoliosis
AU - Dhamija, Radhika
AU - Kirmani, Salman
PY - 2014/6
Y1 - 2014/6
N2 - 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.
AB - 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.
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U2 - 10.1016/j.spen.2014.04.003
DO - 10.1016/j.spen.2014.04.003
M3 - Article
C2 - 25149925
AN - SCOPUS:84929504048
SN - 1071-9091
VL - 21
SP - 67
EP - 71
JO - Seminars in Pediatric Neurology
JF - Seminars in Pediatric Neurology
IS - 2
ER -