A child with progressive dystonia, dysarthria, and spasticity.
Children presenting with progressive neurologic symptoms including dystonia, dysarthria, and spasticity can represent a diagnostic challenge. Here we describe the case of a 14-year-old boy who presented to our center with an 11-year history of gradual worsening neurologic symptoms. Diagnostic strategies focus on the use of neuroimaging and genetic testing to help establish the underlying diagnosis. Therapeutic options are also discussed.
Schrock
Lauren E
LE
Department of Neurology, University of California, San Francisco; Department of Veterans Affairs Parkinson's Disease Research, Education, and Clinical Center (PADRECC), San Francisco, CA, USA.
Ostrem
Jill L
JL
D000293:Adolescent; D001479:Basal Ganglia / Q000473:pathology; D003680:Deglutition Disorders / Q000150:complications / Q000473:pathology; D003937:Diagnosis, Differential; D004401:Dysarthria / Q000150:complications* / Q000473:pathology; D004421:Dystonia / Q000150:complications* / Q000473:pathology; D020233:Gait Disorders, Neurologic / Q000150:complications* / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009128:Muscle Spasticity / Q000150:complications* / Q000473:pathology; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000150:complications* / Q000473:pathology; D013378:Substantia Nigra / Q000473:pathology