期刊
JOURNAL OF KOREAN MEDICAL SCIENCE
卷 26, 期 9, 页码 1244-1246出版社
KOREAN ACAD MEDICAL SCIENCES
DOI: 10.3346/jkms.2011.26.9.1244
关键词
Dystonia; Dopa-responsive; GCH1 Gene; Mutation; Cerebral Palsy; Diagnostic Errors
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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