全部 标题 作者
关键词 摘要

OALib Journal期刊
ISSN: 2333-9721
费用:99美元

查看量下载量

相关文章

更多...

Biotin-Thiamine-Responsive Basal Ganglia Disease: Clinical Features, Treatment Response and Predictive Factors in a Cohort in a Tertiary Hospital

DOI: 10.4236/wjns.2025.151006, PP. 58-72

Keywords: Biotin-Thiamin-Responsive Basal Ganglia Disease, Neuroregression, Neurometabolic, Biotin, Thiamine

Full-Text   Cite this paper   Add to My Lib

Abstract:

Introduction: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a neuroregressive disorder associated with subacute encephalopathy, confusion, dysarthria, and dysphagia, as well as occasional external ophthalmoplegia or supranuclear facial nerve palsy. It may progress to severe rigidity, dystonia, and quadriparesis. Combination therapy of high-dose thiamine and biotin helps to control the symptoms and prevent progression of the disease. Methods: This retrospective, cross-sectional study was conducted at King Fahad Medical City in Riyadh, Saudi Arabia, to investigate the demographic, clinical features, treatment response, outcomes, and predictive factors of BTBGD in the pediatric population. Results: Twenty-five records of pediatric patients diagnosed with BTBGD were included in the study. The most common symptoms observed at presentation were ataxia in 13 patients (52%), followed by developmental regression in 11 patients (44%), and seizures in 7 patients (28%). Statistically significant associations were found between patient’s age of presentation, seizures at presentation, lactate level and their health outcomes. Multivariate logistic regression analysis revealed significant differences in patient outcomes (prognosis) based on their age at presentation, seizures, and lactate levels (p < 0.001); with lactate levels found to be 0.211 times likely to predict patient outcomes. Furthermore, age at first presentation and the presence of seizures were associated with negative health outcomes, with regression coefficients of B = ?0.009 and B = ?0.561, respectively. Conclusion: This study reported BTBGD in 25 pediatric patients in Saudi Arabia. Age at presentation, seizures, and lactate levels were found to be significantly associated with patient health outcomes. Increasing public awareness of the condition, particularly among parents and pediatricians, is imperative. Early diagnosis, along with timely management using biotin and thiamine supplementation, promotes improved health outcomes and prevents progressive neurodegeneration and death.

References

[1]  Ozand, P. (1998) Biotin-Responsive Basal Ganglia Disease: A Novel Entity. Brain, 121, 1267-1279.
https://doi.org/10.1093/brain/121.7.1267
[2]  Alfadhel, M., Almuntashri, M., Jadah, R.H., Bashiri, F.A., Al Rifai, M., Al Shalaan, H., et al. (2013) Biotin-Responsive Basal Ganglia Disease Should Be Renamed Biotin-Thiamine-Responsive Basal Ganglia Disease: A Retrospective Review of the Clinical, Radiological and Molecular Findings of 18 New Cases. Orphanet Journal of Rare Diseases, 8, Article No. 83.
https://doi.org/10.1186/1750-1172-8-83
[3]  Zeng, W., Al-Yamani, E., Acierno, J.S., Slaugenhaupt, S., Gillis, T., MacDonald, M.E., et al. (2005) Biotin-Responsive Basal Ganglia Disease Maps to 2q36.3 and Is Due to Mutations in SLC19A3. The American Journal of Human Genetics, 77, 16-26.
https://doi.org/10.1086/431216
[4]  Savasta, S., Bassanese, F., Buschini, C., Foiadelli, T., Trabatti, C., Efthymiou, S., et al. (2018) Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature. Journal of Pediatric Genetics, 8, 100-108.
https://doi.org/10.1055/s-0038-1676603
[5]  Tabarki, B. and Alfadhel, M. (2017) SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review. Neuropediatrics, 49, 083-092.
https://doi.org/10.1055/s-0037-1607191
[6]  Değerliyurt, A., Gündüz, M., Ceylaner, S., Ünal, Ö. and Ünal, S. (2019) Neonatal Form of Biotin-Thiamine-Responsive Basal Ganglia Disease. Clues to Diagnosis. The Turkish Journal of Pediatrics, 61, 261-266.
https://doi.org/10.24953/turkjped.2019.02.016
[7]  Ortigoza-Escobar, J.D., Serrano, M., Molero, M., Oyarzabal, A., Rebollo, M., Muchart, J., et al. (2014) Thiamine Transporter-2 Deficiency: Outcome and Treatment Monitoring. Orphanet Journal of Rare Diseases, 9, Article No. 92.
https://doi.org/10.1186/1750-1172-9-92
[8]  Debs, R., Depienne, C., Rastetter, A., Bellanger, A., Degos, B., Galanaud, D., et al. (2010) Biotin-Responsive Basal Ganglia Disease in Ethnic Europeans with Novel SLC19A3 Mutations. Archives of Neurology, 67, 126-130.
https://doi.org/10.1001/archneurol.2009.293
[9]  Tabarki, B., Al-Shafi, S., Al-Shahwan, S., Azmat, Z., Al-Hashem, A., Al-Adwani, N., et al. (2013) Biotin-Responsive Basal Ganglia Disease Revisited: Clinical, Radiologic, and Genetic Findings. Neurology, 80, 261-267.
https://doi.org/10.1212/wnl.0b013e31827deb4c
[10]  Kevelam, S.H., Bugiani, M., Salomons, G.S., Feigenbaum, A., Blaser, S., Prasad, C., et al. (2013) Exome Sequencing Reveals Mutated SLC19A3 in Patients with an Early-Infantile, Lethal Encephalopathy. Brain, 136, 1534-1543.
https://doi.org/10.1093/brain/awt054
[11]  Ortigoza-Escobar, J.D., Molero-Luis, M., Arias, A., Oyarzabal, A., Darín, N., Serrano, M., et al. (2015) Free-Thiamine Is a Potential Biomarker of Thiamine Transporter-2 Deficiency: A Treatable Cause of Leigh Syndrome. Brain, 139, 31-38.
https://doi.org/10.1093/brain/awv342
[12]  Aljabri, M.F., Kamal, N.M., Arif, M., AlQaedi, A.M. and Santali, E.Y.M. (2016) A Case Report of Biotin-Thiamine-Responsive Basal Ganglia Disease in a Saudi Child: Is Extended Genetic Family Study Recommended? Medicine, 95, e4819.
https://doi.org/10.1097/md.0000000000004819
[13]  Tabarki, B., Alfadhel, M., AlShahwan, S., Hundallah, K., AlShafi, S. and AlHashem, A. (2015) Treatment of Biotin-Responsive Basal Ganglia Disease: Open Comparative Study between the Combination of Biotin plus Thiamine versus Thiamine Alone. European Journal of Paediatric Neurology, 19, 547-552.
https://doi.org/10.1016/j.ejpn.2015.05.008
[14]  Alfadhel, M. and Al-Bluwi, A. (2017) Psychological Assessment of Patients with Biotin-Thiamine-Responsive Basal Ganglia Disease. Child Neurology Open, 4, 1-4.
https://doi.org/10.1177/2329048x17730742
[15]  Aburezq, M., Alahmad, A., Alsafi, R., Al-Tawari, A., Ramadan, D., Shafik, M., et al. (2023) Biotin-thiamine Responsive Basal Ganglia Disease: A Retrospective Review of the Clinical, Radiological and Molecular Findings of Cases in Kuwait with Novel Variants. Orphanet Journal of Rare Diseases, 18, Article No. 271.
https://doi.org/10.1186/s13023-023-02888-y
[16]  Alfadhel, M., Umair, M., Almuzzaini, B., Alsaif, S., AlMohaimeed, S.A., Almashary, M.A., et al. (2019) Targeted slc19a3 Gene Sequencing of 3000 Saudi Newborn: A Pilot Study toward Newborn Screening. Annals of Clinical and Translational Neurology, 6, 2097-2103.
https://doi.org/10.1002/acn3.50898
[17]  Tabarki, B., Al-Hashem, A. and Alfadhel, M. (2020) Biotin-Thiamine-Responsive Basal Ganglia Disease. University of Washington.
[18]  Lail, G., Blaser, S. and Inbar-Feigenberg, M. (2023) An Unusually Mild Case of Biotin-Thiamine-Responsive Basal Ganglia Disease. Molecular Genetics and Metabolism Reports, 37, Article ID: 101004.
https://doi.org/10.1016/j.ymgmr.2023.101004
[19]  Wesół-Kucharska, D., Greczan, M., Kaczor, M., Pajdowska, M., et al. (2021) Early Treatment of Biotin-Thiamine-Responsive Basal Ganglia Disease Improves the Prognosis. Molecular Genetics and Metabolism Reports, 29, Article ID: 100801.
https://doi.org/10.1016/j.ymgmr.2021.100801
[20]  Algahtani, H., Ghamdi, S., Shirah, B., Alharbi, B., Algahtani, R. and Bazaid, A. (2016) Biotin-Thiamine-Responsive Basal Ganglia Disease: Catastrophic Consequences of Delay in Diagnosis and Treatment. Neurological Research, 39, 117-125.
https://doi.org/10.1080/01616412.2016.1263176
[21]  Kamaşak, T., Havalı, C., İnce, H., Eyüboğlu, İ., Çebi, A.H., Sahin, S., et al. (2018) Are Diagnostic Magnetic Resonance Patterns Life-Saving in Children with Biotin-Thiamine-Responsive Basal Ganglia Disease? European Journal of Paediatric Neurology, 22, 1139-1149.
https://doi.org/10.1016/j.ejpn.2018.06.009
[22]  Alsini, H., Alnozha, A., Asmat, Z., Hundallah, K., Alfadhel, M. and Tabarki, B. (2022) Beyond the Caudate Nucleus: Early Atypical Neuroimaging Findings in Biotin-Thiamine-Responsive Basal Ganglia Disease. Brain and Development, 44, 618-622.
https://doi.org/10.1016/j.braindev.2022.06.009
[23]  Owen, M.J., Niemi, A., Dimmock, D.P., Speziale, M., Nespeca, M., Chau, K.K., et al. (2021) Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome. New England Journal of Medicine, 384, 2159-2161.
https://doi.org/10.1056/nejmc2100365

Full-Text

Contact Us

service@oalib.com

QQ:3279437679

WhatsApp +8615387084133