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.
- Basal ganglia lesion
- Neurodegeneration with brain iron accumulation
- Pantothenate kinase-associated neurodegeneration