Dopa-responsive Dystonia with a Novel Initiation Codon Mutation in the GCH1 Gene Misdiagnosed as Cerebral Palsy.
10.3346/jkms.2011.26.9.1244
- Author:
Jae Hyeok LEE
1
;
Chang Seok KI
;
Dae Seong KIM
;
Jae Wook CHO
;
Kyung Phil PARK
;
Seonhye KIM
Author Information
1. Department of Neurology, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea.
- Publication Type:Case Report
- Keywords:
Dystonia, Dopa-responsive;
GCH1 Gene;
Mutation;
Cerebral Palsy;
Diagnostic Errors
- MeSH:
Adult;
Cerebral Palsy/diagnosis;
Codon, Initiator;
Diagnosis, Differential;
Dystonic Disorders/*diagnosis/drug therapy/*genetics;
Female;
GTP Cyclohydrolase/*genetics;
Humans;
Levodopa/therapeutic use;
Mutation;
Sequence Analysis, DNA
- From:Journal of Korean Medical Science
2011;26(9):1244-1246
- CountryRepublic of Korea
- Language:English
-
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.
