Clinical Reasoning: A 13-Year-Old Boy With Acute-Onset Generalized Dystonia, Rostrocaudal Gradient, and Severe Bulbar...

A 13-year-old adolescent boy developed progressive generalized slowness over 1 month, followed by 10 days of rapidly worsening speech loss, dysphagia, rigidity, and dystonic posturing. Acquired evaluations, including CSF, infectious studies, autoimmune encephalitis panels, and brain MRI, were unrevealing, and empirical corticosteroid/antiviral therapy produced no meaningful improvement. Examination showed severe generalized dystonia with a rostrocaudal severity distribution, prominent bulbar and upper limb involvement, hyperreflexia, ankle clonus, and bilateral Babinski signs. Symptomatic medication produced only a partial reduction of painful paroxysmal episodes without meaningful functional recovery. The patient later underwent bilateral centromedian-parafascicular complex (CM-Pf) deep brain stimulation with limited functional response. This case illustrates how rostrocaudal severity distribution and bulbar dysfunction can redirect the diagnostic approach from acquired encephalitis-like disorders toward early genetic testing.