1.Dopa-responsive Dystonia with a Novel Initiation Codon Mutation in the GCH1 Gene Misdiagnosed as Cerebral Palsy.
Jae Hyeok LEE ; Chang Seok KI ; Dae Seong KIM ; Jae Wook CHO ; Kyung Phil PARK ; Seonhye KIM
Journal of Korean Medical Science 2011;26(9):1244-1246
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.
Adult
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Cerebral Palsy/diagnosis
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Codon, Initiator
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Diagnosis, Differential
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Dystonic Disorders/*diagnosis/drug therapy/*genetics
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Female
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GTP Cyclohydrolase/*genetics
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Humans
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Levodopa/therapeutic use
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Mutation
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Sequence Analysis, DNA