Biotin-responsive basal ganglia disease revisited: Clinical, radiologic, and genetic findings

Conclusion:
BBGD is an underdiagnosed pan-ethnic treatable condition. Clinicians caring for patients with unexplained encephalopathy and neuroimaging showing vasogenic edema in the bilateral putamen and caudate nuclei, infra- and supratentorial cortex, and brainstem should consider this disorder early in the hospital course because a therapeutic trial with biotin and thiamine can be lifesaving.

Source: Neurology - January 14, 2013 Category: Neurology Authors: Tabarki, B., Al-Shafi, S., Al-Shahwan, S., Azmat, Z., Al-Hashem, A., Al-Adwani, N., Biary, N., Al-Zawahmah, M., Khan, S., Zuccoli, G. Tags: All Imaging, Metabolic disease (inherited), Dystonia, Basal ganglia ARTICLE Source Type: research