Misdiagnoses in children with dopa-responsive dystonia.
Dystonia is a state of continuous contraction of groups of agonist and antagonist muscles resulting in a sustained abnormal posture. Dopa-responsive dystonia was first described in 1976 by Segawa. Patients typically have diurnal variation of their symptoms with worsening at the end of the day and a dramatic response to low-dose L-dopa. This report presents five consecutive children with dopa-responsive dystonia who were misdiagnosed initially as spastic diplegic cerebral palsy, intractable epilepsy, hereditary spastic paraplegia, or a neurodegenerative disorder. There were two males and three females aged 3-13 years (mean 8.6 years). They were monitored for up to 2 years (mean 14.8 months). One had focal, one axial, one segmental, and two generalized dystonia. The dystonia was paroxysmal in two (tiptoe walking and opisthotonus), and all had a progressive course. All children responded dramatically to L-dopa (mean 200 mg/day), including three who were wheelchair-bound for several years. The difficulties in early diagnosis, variability of clinical presentation, and dramatic response to L-dopa will be illustrated. To conclude, dopa-responsive dystonia should be considered in any child who presents with paroxysmal or progressive hypertonia of unknown etiology, because it responds so dramatically to L-dopa.
Jan
Mohammed M S
MM
Department of Pediatrics, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia.
D000293:Adolescent; D002547:Cerebral Palsy / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D003951:Diagnostic Errors; D015259:Dopamine Agents / Q000627:therapeutic use*; D004421:Dystonia / Q000175:diagnosis* / Q000188:drug therapy* / Q000209:etiology; D004827:Epilepsy / Q000175:diagnosis; D005260:Female; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D008297:Male; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis
D015259:Dopamine Agents; D007980:Levodopa