Abstract:The patient was a male who was found to be abnormal at the age of 4.5 months. He presented with irritability, motor regression and opisthotonus. Brain MRI revealed bilateral abnormality in the lentiform nucleus, thalamus, deutocerebrum and cerebellar hemispheres. Novel compound heterozygous mutations of SLC19A3 gene, c.950G > A(p.G317E) and c.962C > T(p.A321V), were found in the patient. Further study showed that c.950G > A was inherited from his father and c.962C > T came from his mother. Using bioinformatics software analysis, both of the mutations were found to be harmful. His symptoms were improved remarkably after biotin, thiamine and "cocktail" therapy. One month later a brain MRI revealed that the lesions in basal ganglia and cerebellar hemispheres were improved. The patient was definitely diagnosed with biotin-thiamine responsive basal ganglia disease (BTBGD). BTBGD is a treatable autosomal recessive disease and early administration of biotin and thiamine may lead to clinical improvement.
WEN Yong-Xin,WANG Jia-Ping,CHEN Yan et al. Paroxysmal crying and motor regression for more than two months in an infant[J]. CJCP, 2019, 21(4): 399-404.
Ozand PT, Gascon GG, Al Essa M, et al. Biotin-responsive basal ganglia disease:a novel entity[J]. Brain, 1998, 121(Pt 7):1267-1279.
[2]
Ferreira CR, Whitehead MT, Leon E. Biotin-thiamine responsive basal ganglia disease:identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated nextgeneration sequencing data[J]. Am J Med Genet A, 2017, 173(6):1502-1513.
Adhisivam B, Mahto D, Mahadevan S. Biotin responsive limb weakness[J]. Indian Pediatr, 2007, 44(3):228-230.
[5]
Alfadhel M, Almuntashri M, Jadah RH, et al. Biotin-responsive basal ganglia disease should be renamed biotin-thiamineresponsive basal ganglia disease:a retrospective review of the clinical, radiological and molecular findings of 18 new cases[J]. Orphanet J Rare Dis, 2013, 8:83.
[6]
Bindu PS, Noone ML, Nalini A, et al. Biotin-responsive basal ganglia disease:a treatable and reversible neurological disorder of childhood[J]. J Child Neurol, 2009, 24(6):750-752.
[7]
Algahtani H, Ghamdi S, Shirah B, et al. Biotin-thiamineresponsive basal ganglia disease:catastrophic consequences of delay in diagnosis and treatment[J]. Neurol Res, 2017, 39(2):117-125.
[8]
Aljabri MF, Kamal NM, Arif M, et al. A case report of biotinthiamine-responsive basal ganglia disease in a Saudi child:is extended genetic family study recommended?[J]. Medicine (Baltimore), 2016, 95(40):e4819.
[9]
Bin Saeedan M, Dogar MA. Teaching neuroimages:MRI findings of biotin-responsive basal ganglia disease before and after treatment[J]. Neurology, 2016, 86(7):e71-e72.
[10]
Bubshait DK, Rashid A, Al-Owain MA, et al. Depression in adult patients with biotin responsive basal ganglia disease[J]. Drug Discov Ther, 2016, 10(4):223-225.
[11]
Debs R, Depienne C, Rastetter A, et al. Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations[J]. Arch Neurol, 2010, 67(1):126-130.
Eichler FS, Swoboda KJ, Hunt AL, et al. Case 38-2017. A 20-year-old woman with seizures and progressive dystonia[J]. N Engl J Med, 2017, 377(24):2376-2385.
[14]
El-Hajj TI, Karam PE, Mikati MA. Biotin-responsive basal ganglia disease:case report and review of the literature[J]. Neuropediatrics, 2008, 39(5):268-271.
[15]
Fassone E, Wedatilake Y, DeVile CJ, et al. Treatable Leigh-like encephalopathy presenting in adolescence[J]. BMJ Case Rep, 2013, 2013:200838.
[16]
Flønes I, Sztromwasser P, Haugarvoll K, et al. Novel SLC19A3 promoter deletion and allelic silencing in viotin-thiamineresponsive basal ganglia encephalopathy[J]. PLoS One, 2016, 11(2):e0149055.
[17]
Kassem H, Wafaie A, Alsuhibani S, et al. Biotin-responsive basal ganglia disease:neuroimaging features before and after treatment[J]. AJNR Am J Neuroradiol, 2014, 35(10):1990-1995.
[18]
Schänzer A, Döring B, Ondrouschek M, et al. Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamineresponsive basal ganglia disease[J]. Brain Pathol, 2014, 24(3):270-279.
[19]
Serrano M, Rebollo M, Depienne C, et al. Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency[J]. Mov Disord, 2012, 27(10):1295-1298.
[20]
Tabarki B, Al-Shafi S, Al-Shahwan S, et al. Biotin-responsive basal ganglia disease revisited:clinical, radiologic, and genetic findings[J]. Neurology, 2013, 80(3):261-267.
[21]
Alfadhel M, Al-Bluwi A. Psychological assessment of patients with biotin-thiamine-responsive basal ganglia disease[J]. Child Neurol Open, 2017, 4:2329048X17730742.
[22]
Gerards M, Kamps R, van Oevelen J, et al. Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome[J]. Brain, 2013, 136(Pt 3):882-890.
[23]
Gowda VK, Srinivasan VM, Bhat M, et al. Biotin thiamin responsive basal ganglia disease in siblings[J]. Indian J Pediatr, 2018, 85(2):155-157.
[24]
Haack TB, Klee D, Strom TM, et al. Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease[J]. Brain, 2014, 137(Pt 9):e296.
[25]
Kevelam SH, Bugiani M, Salomons GS, et al. Exome sequencing reveals mutated SLC19A3 in patients with an earlyinfantile, lethal encephalopathy[J]. Brain, 2013, 136(Pt 5):1534-1543.
[26]
Kohrogi K, Imagawa E, Muto Y, et al. Biotin-responsive basal ganglia disease:a case diagnosed by whole exome sequencing[J]. J Hum Genet, 2015, 60(7):381-385.
[27]
Kono S, Miyajima H, Yoshida K, et al. Mutations in a thiaminetransporter gene and Wernicke's-like encephalopathy[J]. N Engl J Med, 2009, 360(17):1792-1794.
[28]
Muthusamy K, Ekbote AV, Thomas MM, et al. Biotin thiamine responsive basal ganglia disease-a potentially treatable inborn error of metabolism[J]. Neurol India, 2016, 64(6):1328-1331.
[29]
Ortigoza-Escobar JD, Serrano M, Molero M, et al. Thiamine transporter-2 deficiency:outcome and treatment monitoring[J]. Orphanet J Rare Dis, 2014, 9:92.
[30]
Pérez-Dueñas B, Serrano M, Rebollo M, et al. Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency[J]. Pediatrics, 2013, 131(5):e1670-e1675.
[31]
Pronicka E, Piekutowska-Abramczuk D, Ciara E, et al. New perspective in diagnostics of mitochondrial disorders:two years' experience with whole-exome sequencing at a national paediatric centre[J]. J Transl Med, 2016, 14(1):174.
[32]
Pronicki M, Piekutowska-Abramczuk D, Jurkiewicz E, et al. Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamineresponsive basal ganglia disease[J]. Folia Neuropathol, 2017, 55(2):146-153.
Tabarki B, Alfadhel M, AlShahwan S, et al. Treatment of biotinresponsive basal ganglia disease:open comparative study between the combination of biotin plus thiamine versus thiamine alone[J]. Eur J Paediatr Neurol, 2015, 19(5):547-552.
[36]
Tonduti D, Invernizzi F, Panteghini C, et al. SLC19A3 related disorder:treatment implication and clinical outcome of 2 new patients[J]. Eur J Paediatr Neurol, 2018, 22(2):332-335.
[37]
Whitford W, Hawkins I, Glamuzina E, et al. Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease[J]. Cold Spring Harb Mol Case Stud, 2017, 3(6). pii:a001909.
[38]
Yamada K, Miura K, Hara K, et al. A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations[J]. BMC Med Genet, 2010, 11:171.
[39]
Ygberg S, Naess K, Eriksson M, et al. Biotin and thiamine responsive basal ganglia disease-a vital differential diagnosis in infants with severe encephalopathy[J]. Eur J Paediatr Neurol, 2016, 20(3):457-461.
[40]
Kamasak T, Havalı C, İnce H, et al. Are diagnostic magnetic resonance patterns life-saving in children with biotin-thiamineresponsive basal ganglia disease?[J]. Eur J Paediatr Neurol, 2018, 22(6):1139-1149.
[41]
Mir A, Alhazmi R, Albaradie R. Biotin-thiamine-responsive basal ganglia disease-a treatable metabolic disorder[J]. Pediatr Neurol, 2018, 87:80-81.
[42]
Zeng WQ, Al-Yamani E, Acierno JS Jr, et al. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3[J]. Am J Hum Genet, 2005, 77(1):16-26.