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- W2340478311 abstract "This nine-year-old girl with developmental regression, gait abnormality, and autism spectrum disorder presented for behavioral concerns. She had exhibited hyperactivity and global developmental regression since around age four years. Her ophthalmology examination revealed significantly decreased visual acuity and optic atrophy. She was hospitalized for visual hallucinations and withdrawn behavior shortly thereafter. Two months later, she developed staring episodes, and electroencephalography showed temporal sharp wave discharges, suggesting a partial seizure disorder. Her brain magnetic resonance imaging was normal. Repeat eye examination several months later confirmed a further decrease in visual acuity and revealed a cherry-red foveal spot and vascular attenuation in both eyes (Fig 1). At her most recent examination, visual acuity was poor but stable, and her fundoscopic examination showed a bull's eye maculopathy (Fig 2). Figure 2Bull's eye maculopathy. The arrow indicates the area of maculopathy. (The color version of this figure is available in the online edition.) View Large Image Figure Viewer Download Hi-res image" @default.
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- W2340478311 date "2016-09-01" @default.
- W2340478311 modified "2023-09-24" @default.
- W2340478311 title "Next-Generation Sequencing in the Diagnosis of Juvenile Neuronal Ceroid Lipofuscinosis" @default.
- W2340478311 cites W2031128262 @default.
- W2340478311 doi "https://doi.org/10.1016/j.pediatrneurol.2016.04.001" @default.
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