Infantile-onset paroxysmal dystonia: a diagnostic dilemma.

A 4-year-old boy presented with a history of paroxysmal dystonic posturing since birth. Episodes were triggered by stress, fatigue, and cold. Sleep, for as short as 1 minute, resulted in complete resolution of dystonia. He was developmentally normal, with no focal neurologic deficits. Cerebrospinal fluid, homovanillic acid (HVA), and 5-hydroxyindoleacetic acid (5-HIAA) were borderline low. On ictal spectroscopy, there was reduced blood flow to the right temporal region, caudate nuclei, and thalami. The typical infantile form of dystonia is benign, resolving by 2 years of age in an otherwise normal child. Our patient remains symptomatic at 4 years of age.