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CNS 2016
December 05-07, 2016
Volume 7, Issue 5(Suppl) J Neurol Neurophysiol
ISSN: 2155-9562 JNN, an open access journal
conferenceseries .com
December 05-07, 2016 Dubai, UAE
2nd International Conference on
Central Nervous System Disorders & Therapeutics
Abdulrahman Bazaid et al., J Neurol Neurophysiol 2016, 7:5(Suppl)
Biotin-responsive basal ganglia disease: Catastrophic consequences of delay in diagnosis
Abdulrahman Bazaid1, Hussein Algahtani 2, Saeed Ghamdi2, Bader Shirah 2, Bader Alharbi2 and Raghad Algahtani2
1Batterjee Medical College, KSA
2King Saud bin Abdulaziz University for Health Sciences, KSA
Background: Biotin-Responsive Basal Ganglia Disease (BBGD) is an autosomal recessive neurometabolic disorder caused
by mutations in the SLC19A3 gene. The disease is characterized by subacute encephalopathy with confusion, dysphagia,
dysarthria and seizures.
Methods: We diagnosed a family affected by BBGD and studied them including prognosis of cases when diagnosed and
treated early in the disease process. We also review the literature comprehensively and summarize all published data about this
disorder.
Results: Since its first description, a total of 89 cases (46 females and 43 males) have been published in the literature. We
studied six patients in this article in which three died before a diagnosis was established, one was diagnosed lately and is
currently severely affected, and two were diagnosed early and are currently stable on treatment. The clinical phenotype of each
family member was studied in details and a genetic testing using whole exome sequencing and Sanger sequencing of the family
members was done to confirm the diagnosis. The whole exome sequencing revealed a homozygous mutation in the exon 5 of
the SLC19A3 gene c.1264A>G (p.Thr422Ala) which is diagnostic of biotin-responsive basal ganglia disease.
Conclusion: BBGD is a treatable condition if recognized early and managed appropriately. Children presenting with
unexplained encephalopathy and MRI abnormalities including bilateral signal alteration of caudate nucleus and putamen
should raise the suspicion for BBGD and be started immediately on biotin and thiamine regimen since the prognosis of the
disease is affected by the timing of treatment initiation.
Biography
Abdulrahman Bazaid is a medical intern at King Abdulaziz Medical City in Jeddah, Saudi Arabia. He obtained his MBBS degree from Battarjee Medical College
in Jeddah, Saudi Arabia. He attended several seminars, courses and workshops in research methodology. He is determined to pursue his career as a physician,
academician and researcher.