title: Dopa-responsive dystonia with a novel initiation codon mutation in the GCH1 gene misdiagnosed as cerebral palsy.
abstract: Dopa-responsive dystonia (DRD) is a clinical syndrome characterized by childhood-onset dystonia and a dramatic response to relatively low doses of levodopa. However, patients with DRD can be misdiagnosed as cerebral palsy or spastic diplegia due to phenotypic variation. Here we report a young woman with DRD who were severely disabled and misdiagnosed as cerebral palsy for over 10 yr. A small dose of levodopa restored wheelchair-bound state to normality. However, thoracolumbar scoliosis has remained as a sequel due to late detection of DRD. Genetic analysis by using PCR-direct sequencing revealed a novel initiation codon mutation (c.1A>T; p.Met1Leu) in GTP cyclohydrolase 1 (GCH1) gene. Although it is known that DRD can be misdiagnosed as cerebral palsy, this case reinforces the importance of differential diagnosis of DRD from cerebral palsy.
authors.affiliation: Department of Neurology, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea.
authors.forename: Jae-Hyeok
authors.initials: JH
authors.lastname: Lee
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Dae-Seong
authors.initials: DS
authors.lastname: Kim
authors.forename: Jae-Wook
authors.initials: JW
authors.lastname: Cho
authors.forename: Kyung-Phil
authors.initials: KP
authors.lastname: Park
authors.forename: Seonhye
authors.initials: S
authors.lastname: Kim
mesh_terms: D000328:Adult; D002547:Cerebral Palsy / Q000175:diagnosis; D018387:Codon, Initiator; D003937:Diagnosis, Differential; D020821:Dystonic Disorders / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D006136:GTP Cyclohydrolase / Q000235:genetics*; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D009154:Mutation; D017422:Sequence Analysis, DNA
chemical_list: D018387:Codon, Initiator; D007980:Levodopa; D006136:GTP Cyclohydrolase