Dopa-responsive dystonia (Segawa syndrome).
A 12 year old boy with gradually worsening global developmental delay was diagnosed and managed as quadriplegic cerebral palsy since child-hood. Subsequent evaluation revealed marked dystonia over spasticity leading to suspicion of Segawa syndrome. Dramatic improvement in clinical condition followed after therapy with low dose L-Dopa.
Kamal
Neel
N
Childrens Center, Hull and East Riding Community Health NHS Trust, Hull, United Kingdom. neel.kamal@humber.nhs.uk
Bhat
Deepti Pagare
DP
Carrick
Emma
E
D002547:Cerebral Palsy / Q000175:diagnosis* / Q000503:physiopathology; D002648:Child; D003951:Diagnostic Errors; D015259:Dopamine Agents / Q000627:therapeutic use*; D020821:Dystonic Disorders / Q000175:diagnosis* / Q000188:drug therapy* / Q000503:physiopathology; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D008297:Male; D011782:Quadriplegia / Q000188:drug therapy / Q000209:etiology; D013577:Syndrome; D016896:Treatment Outcome
D015259:Dopamine Agents; D007980:Levodopa