Peculiar neuroimaging and electrophysiological findings in a patient with biotinidase deficiency
نویسندگان
چکیده
We report a patient with biotinidase deficiency with peculiar findings on her MRI brain. Subcortical cysts combined with Dandy Walker cyst on the brain MRI have never been reported. There are many documented case reports of biotinidase deficiency and several of them have included findings on neuroimaging. Subcortical cysts have been documented in one patient with biotinidase deficiency previously and on autopsy in one other patient. Video EEG on the same patient showed evidence of symptomatic generalized epilepsy.
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ورودعنوان ژورنال:
- Seizure
دوره 20 شماره
صفحات -
تاریخ انتشار 2011