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.
Subject(s)
Adult , Female , Humans , Cerebral Palsy/diagnosis , Codon, Initiator , Diagnosis, Differential , Dystonic Disorders/diagnosis , GTP Cyclohydrolase/genetics , Levodopa/therapeutic use , Mutation , Sequence Analysis, DNAABSTRACT
Wilson's disease with extensive cortico-subcortical lesions represents a rare pathological condition. We experienced an unusual case of prominent frontal cortico-subcortical lesions in association with epilepsy. One year after decoppering therapy, improvement of extrapyramidal signs was correlated with decrement of the abnormal signals in basal ganglia and thalamus, while atrophic change was apparent. However, the lesions in subcortical white matter indicated the presence of encephalomalacic change. These findings suggest that the prognosis of subcortical white-matter changes can differ from that of basal ganglia changes.
Subject(s)
Humans , Basal Ganglia , Epilepsy , Hepatolenticular Degeneration , Prognosis , ThalamusABSTRACT
A 27-year-old woman suffered a sudden visual disturbance in the right eye. The right eye had a visual acuity of 0.02 and a relative afferent pupillary defect. A visual-field examination revealed an inferotemporal field defect in the right eye. A fundus examination revealed no abnormalities that were responsible for the visual-field defect. Multifocal electroretinography showed decreased responses in the right eye at the corresponding area with the visual-field defect. She was diagnosed as acute zonal occult outer retinopathy.