Biotin-Responsive Basal Ganglia Disease: EEG Characteristics  and Seizure Phenotypes

Authors

Bruce Janati1 , Naif ALGhasab2 , Sulaman Almesned3 , Mohammed Alharbi4 , Leen Altamimi5 , Sumayyah Almarshedy6 , Fahd Almesned7

Biotin, Thiamine, Seizure, Electroencephalography

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.