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KMID : 0191120110260091244
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Journal of Korean Medical Science
2011 Volume.26 No. 9 p.1244 ~ p.1246
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Dopa-responsive Dystonia with a Novel Initiation Codon Mutation in the GCH1 Gene Misdiagnosed as Cerebral Palsy
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Lee Jae-Hyeok
Ki Chang-Seok
Kim Dae-Seong
Cho Jae-Wook
Park Kyung-Phil
Kim Seon-hye
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Abstract
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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.
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KEYWORD
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Dystonia, Dopa-responsive, GCH1 Gene, Mutation, Cerebral Palsy, Diagnostic Errors
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