| Autor: |
Janati, Bruce, ALGhasab, Naif, Almesned, Sulaman, Alharbi, Mohammed, Altamimi, Leen, Almarshedy, Sumayyah, Almesned, Fahd |
| Předmět: |
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| Zdroj: |
Indian Journal of Public Health Research & Development; Aug2020, Vol. 11 Issue 8, p237-241, 5p |
| Abstrakt: |
Objective: To discuss EEG findings and seizure phenotypes in “biotin-responsive basal ganglia disease” (BRBGD), a rare, autosomal recessive, life-threatening, but potentially reversible encephalopathy with characteristic MRI findings. Methods: We report on two patients with BRBGD in whom we correlated the EEG findings with MRI abnormalities. We also review the literature on EEG and seizure types in this syndrome. Results: Our patient 1 had a focal electrographic seizure corresponding to a homotopic focal MRI pathology. Patient 2 had a normal EEG. The literature review showed both partial and generalized convulsive seizures with occasional occurrence of infantile spasms. Conclusion: 1- The data suggest both electro-clinical and electro-anatomical dissociation in BRBGD. 2-Seizures in BRBGD are primarily caused by the underlying metabolic encephalopathy, although focal epileptiform discharges may signify a homotopic focal cerebral pathology caused by BRBGD. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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