Abstract
Background
Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a treatable neurometabolic
disease caused by variants in SLC19A3. Typical imaging features include symmetrical involvement of the caudate nuclei and
putamina.
Objective
The study sought to explore classical BTBGD without caudate nucleus involvement, to
highlight the importance of recognizing this new pattern early in the disease.
Methods
Individuals with genetically confirmed BTBGD who harbored the same homozygous variant:
NM_025243.4 (SLC19A3): c.1264A > G (p.Thr422Ala) and had atypical neuroimaging were recruited.
Results
Nine patients with BTBGD had atypical neuroimaging findings on the first MRI scan.
The median age at symptom onset was 3 years. All patients presented with classical
clinical features of subacute encephalopathy, dystonia, ataxia, and seizures. During
the acute crisis, MRI revealed bilateral and symmetric involvement of the putamina
in all patients; one showed small caudate nuclei involvement. In addition, the thalami,
cerebellum, and brain stem were involved in six patients, seven patients, and three
patients, respectively. Treatment included a combination of high doses of thiamine
and biotin. One patient died; he did not receive any vitamin supplementation. Two
patients who were treated late had severe neurological sequelae, including generalized
dystonia and quadriplegia. Six patients treated early had good outcomes with minimal
sequelae, including mild dystonia and dysarthria. Two patients showed the classical
chronic atrophic and necrotic changes already described.
Conclusion
The early atypical neuroimaging pattern of BTBGD described here, particularly the
lack of caudate nucleus involvement, should not dissuade the clinician and radiologist
from considering a diagnosis of BTBGD.
Keywords
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Article info
Publication history
Published online: July 07, 2022
Accepted:
June 27,
2022
Received in revised form:
June 24,
2022
Received:
March 23,
2022
Identification
Copyright
© 2022 The Japanese Society of Child Neurology Published by Elsevier B.V. All rights reserved.
