Biotin–Thiamine Responsive Basal Ganglia Disease: A Treatable Metabolic Encephalopathy—Not to Be Missed!

2018 ◽  
Vol 18 (02) ◽  
pp. 098-102
Author(s):  
Tarishi Nemani ◽  
Puja Mehta ◽  
Anaita Udwadia-Hegde
Keyword(s):  
Basal Ganglia ◽  
Complete Resolution ◽  
Autosomal Recessive ◽  
Indian Subcontinent ◽  
Female Child ◽  
Exon 2 ◽  
Metabolic Encephalopathy ◽  
Radiological Features ◽  
Extrapyramidal Signs ◽  
Basal Ganglia Disease

AbstractBiotin–thiamine responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder, characterized by encephalopathy, extrapyramidal signs following mild infection, trauma or surgery and is potentially reversible with treatment. We describe a 15-month-old female child of Indian-Muslim origin with characteristic clinical and radiological features of BTBGD that showed complete resolution with treatment. A comparison with previously reported cases reveals a different mutation (exon 2 vs. exon 5 in middle east cases) in the SLC19A3 gene that could be specific for the Indian subcontinent. We also emphasize the importance of a trial of vitamins in patients with acute metabolic encephalopathy.

scholarly journals Psychological Assessment of Patients With Biotin-Thiamine-Responsive Basal Ganglia Disease

2017 ◽  
Vol 4 ◽  
pp. 2329048X1773074 ◽  
Author(s):  
Majid Alfadhel ◽  
Amal Al-Bluwi
Keyword(s):  
Basal Ganglia ◽  
Psychological Assessment ◽  
Autosomal Recessive ◽  
Chart Review ◽  
Mathematical Problem ◽  
Brain Magnetic Resonance Imaging ◽  
Retrospective Chart Review ◽  
Normal Outcome ◽  
Basal Ganglia Disease ◽  
Visual Motor

Biotin-thiamine-responsive basal ganglia disease is a devastating autosomal recessive inherited neurological disorder. We conducted a retrospective chart review of all patients with biotin-thiamine-responsive basal ganglia disease who underwent a formal psychological assessment. Six females and 3 males were included. Five patients (56%) had an average IQ, two patients (22%) had mild delay, and two (22%) had severe delay. A normal outcome was directly related to the time of diagnosis and initiation of treatment. Early diagnosis and immediate commencement of treatment were associated with a favorable outcome and vice versa. The most affected domain was visual motor integration, while understanding and mathematical problem-solving were the least affected. In summary, this is the first study discussing the psychological assessment of patients with biotin-thiamine-responsive basal ganglia disease. The results of this study alert clinicians to consider prompt initiation of biotin and thiamine in any patient presenting with neuroregression and a basal ganglia lesion on a brain magnetic resonance imaging.

Biotin-responsive basal ganglia disease: a treatable differential diagnosis of Leigh syndrome

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
F Distelmaier ◽  
P Huppke ◽  
J Schaper ◽  
E Morava ◽  
E Mayatepek ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Basal Ganglia ◽  
Leigh Syndrome ◽  
Basal Ganglia Disease

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

Neurology ◽  
2012 ◽  
Vol 80 (3) ◽  
pp. 261-267 ◽  
Author(s):  
B. Tabarki ◽  
S. Al-Shafi ◽  
S. Al-Shahwan ◽  
Z. Azmat ◽  
A. Al-Hashem ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Basal Ganglia Disease

Posterior Reversible Encepalopathy Syndrome in A Child With Post Streptococcal Glomerulonephritis- A Rare Case Report

Med Phoenix ◽  
2021 ◽  
Vol 6 (1) ◽  
pp. 50-52
Author(s):  
Sunita Ghimire ◽  
Shree Krishna Shrestha ◽  
Ram Chandra Bastola ◽  
Anita Dahal ◽  
Pragya Shakya
Keyword(s):  
Posterior Reversible Encephalopathy Syndrome ◽  
Vasogenic Edema ◽  
Female Child ◽  
Hypertensive Encephalopathy ◽  
Posterior Reversible Encephalopathy ◽  
Radiological Features ◽  
Rare Case Report ◽  
Post Streptococcal Glomerulonephritis ◽  
Reversible Encephalopathy ◽  
Timely Treatment

Posterior reversible encephalopathy syndrome is a condition occurring  in majority of case of  hypertensive encephalopathy mainly due to vasogenic  edema in parieto occipital region in neuroimaging. It is reversible if timely treatment is done .Here we are reporting a 11 year old female child with acute post streptococal glomerulonephrtitis leading to typical clinical and radiological features of posterior reversible encephalopathy syndrome

scholarly journals Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease

2017 ◽  
Vol 3 (6) ◽  
pp. a001909 ◽  
Author(s):  
Whitney Whitford ◽  
Isobel Hawkins ◽  
Emma Glamuzina ◽  
Francessa Wilson ◽  
Andrew Marshall ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Promoter Region ◽  
Compound Heterozygous ◽  
Basal Ganglia Disease

scholarly journals Depression in adult patients with biotin responsive basal ganglia disease

2016 ◽  
Vol 10 (4) ◽  
pp. 223-225 ◽  
Author(s):  
Dalal K. Bubshait ◽  
Asif Rashid ◽  
Mohammed A. Al-Owain ◽  
Raashda A. Sulaiman
Keyword(s):  
Basal Ganglia ◽  
Adult Patients ◽  
Basal Ganglia Disease

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

10.1038/ng571 ◽  
2001 ◽  
Vol 28 (4) ◽  
pp. 350-354 ◽  
Author(s):  
Andrew R.J. Curtis ◽  
Constanze Fey ◽  
Christopher M Morris ◽  
Laurence A. Bindoff ◽  
Paul G. Ince ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Adult Onset ◽  
Gene Encoding ◽  
Basal Ganglia Disease

Biotin–thiamine–responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment

2016 ◽  
Vol 39 (2) ◽  
pp. 117-125 ◽  
Author(s):  
Hussein Algahtani ◽  
Saeed Ghamdi ◽  
Bader Shirah ◽  
Bader Alharbi ◽  
Raghad Algahtani ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Diagnosis And Treatment ◽  
Delay In Diagnosis ◽  
Basal Ganglia Disease
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