Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis.
BTBGD
Biotin
SLC19A3
Second thiamine-transporter
Thiamine
hThTr2
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Dec 2021
Dec 2021
Historique:
received:
06
07
2021
revised:
01
09
2021
accepted:
01
09
2021
entrez:
11
10
2021
pubmed:
12
10
2021
medline:
12
10
2021
Statut:
epublish
Résumé
Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder associated with pathogenic variants in A retrospective review of clinical characteristics, magnetic resonance imaging and molecular findings in 3 patients with BTBGD. The first symptoms in all patients occurred at 12-24 months of age and they had subacute encephalopathy, ataxia and dystonia. The baseline magnetic resonance imaging demonstrated abnormal signal intensity in the basal ganglia with atrophy and necrosis of the basal ganglia during follow-up in two patients. One patient was diagnosed and the treatment was initiated after a long period from symptoms onset and he is currently severely affected, with dystonia, quadriparesis and seizures. The other two patients were diagnosed early in life and are currently stable on treatment, without the clinical symptoms. Genetic testing demonstrated pathogenic variants in To avoid diagnostic errors and delayed or incorrect treatment, BTBGD must be recognized early. Adequate prompt treatment gives the chance of significant clinical improvement. Unexplained encephalopathy and MRI abnormalities including bilateral abnormal signal in the basal ganglia should alert the clinician to consider BTBGD in the differential, and the treatment with biotin and thiamine should be introduced immediately.
Sections du résumé
BACKGROUND
BACKGROUND
Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder associated with pathogenic variants in
METHOD
METHODS
A retrospective review of clinical characteristics, magnetic resonance imaging and molecular findings in 3 patients with BTBGD.
RESULTS
RESULTS
The first symptoms in all patients occurred at 12-24 months of age and they had subacute encephalopathy, ataxia and dystonia. The baseline magnetic resonance imaging demonstrated abnormal signal intensity in the basal ganglia with atrophy and necrosis of the basal ganglia during follow-up in two patients. One patient was diagnosed and the treatment was initiated after a long period from symptoms onset and he is currently severely affected, with dystonia, quadriparesis and seizures. The other two patients were diagnosed early in life and are currently stable on treatment, without the clinical symptoms. Genetic testing demonstrated pathogenic variants in
CONCLUSION
CONCLUSIONS
To avoid diagnostic errors and delayed or incorrect treatment, BTBGD must be recognized early. Adequate prompt treatment gives the chance of significant clinical improvement. Unexplained encephalopathy and MRI abnormalities including bilateral abnormal signal in the basal ganglia should alert the clinician to consider BTBGD in the differential, and the treatment with biotin and thiamine should be introduced immediately.
Identifiants
pubmed: 34631424
doi: 10.1016/j.ymgmr.2021.100801
pii: S2214-4269(21)00095-1
pmc: PMC8488057
doi:
Types de publication
Case Reports
Langues
eng
Pagination
100801Informations de copyright
© 2021 The Authors.
Déclaration de conflit d'intérêts
All authors have no conflicts of interest to disclose.
Références
Orphanet J Rare Dis. 2014 Jun 23;9:92
pubmed: 24957181
Eur J Paediatr Neurol. 2016 May;20(3):457-61
pubmed: 26975589
Folia Neuropathol. 2017;55(2):146-153
pubmed: 28677371
Ann Neurol. 2017 Sep;82(3):317-330
pubmed: 28856750
Pediatr Neurol. 2018 Oct;87:80-81
pubmed: 30119991
Brain. 2016 Jan;139(Pt 1):31-8
pubmed: 26657515
Neuropediatrics. 2018 Apr;49(2):83-92
pubmed: 28962040
Ann Clin Transl Neurol. 2019 Oct;6(10):2097-2103
pubmed: 31557427
Orphanet J Rare Dis. 2013 Jun 06;8:83
pubmed: 23742248
J Inherit Metab Dis. 2014 Jul;37(4):577-85
pubmed: 24789339
Child Neurol Open. 2018 Apr 26;5:2329048X18773218
pubmed: 29770345
Expert Rev Neurother. 2016 Jul;16(7):755-63
pubmed: 27191787
Neurol Res. 2017 Feb;39(2):117-125
pubmed: 27905264
Eur J Paediatr Neurol. 2018 Nov;22(6):1139-1149
pubmed: 30054086
Brain. 2014 Sep;137(Pt 9):e297
pubmed: 24878500
Am J Med Genet A. 2017 Jun;173(6):1502-1513
pubmed: 28402605
Mol Genet Genomic Med. 2020 Sep;8(9):e1263
pubmed: 32337850
Neuropediatrics. 2008 Oct;39(5):268-71
pubmed: 19294600
J Inherit Metab Dis. 2019 Jul;42(4):581-597
pubmed: 31095747
J Transl Med. 2016 Jun 12;14(1):174
pubmed: 27290639
BMC Med Genet. 2010 Dec 22;11:171
pubmed: 21176162
Turk J Pediatr. 2019;61(2):261-266
pubmed: 31951338
Eur J Paediatr Neurol. 2015 Sep;19(5):547-52
pubmed: 26095097
Arch Neurol. 2010 Jan;67(1):126-30
pubmed: 20065143
Pediatrics. 2013 May;131(5):e1670-5
pubmed: 23589815
Brain. 1998 Jul;121 ( Pt 7):1267-79
pubmed: 9679779
Brain Pathol. 2014 Apr;24(3):270-9
pubmed: 24372704
Brain. 2013 May;136(Pt 5):1534-43
pubmed: 23482991