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Case report: biotin-thiamine-responsive basal ganglia disease with severe subdural hematoma on magnetic resonance imaging.

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Title: Case report: biotin-thiamine-responsive basal ganglia disease with severe subdural hematoma on magnetic resonance imaging.
Authors: Huang, Huasheng (AUTHOR), Jiang, Hongliang (AUTHOR), Yang, Mingxiu (AUTHOR), Gao, Yujuan (AUTHOR), Cao, Liming (AUTHOR)
Source: International Journal of Neuroscience. 2024, Vol. 134 Issue 2, p184-192. 9p.
Subjects: Basal ganglia diseases, Magnetic resonance imaging, Pupillary reflex, Whole genome sequencing, Cerebral atrophy, Subdural hematoma, Agenesis of corpus callosum
Abstract: Background: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare, treatable autosomal recessive neurometabolic disorder. This condition eventually leads to severe disability and death if not treated correctly. The clinical features of BTBGD, especially those with unusual complications, are not widely known by neurologists or pediatricians.Case presentation: A 4-month-old male infant was admitted to the hospital with a history of cough for the past 7 days and convulsions of 6 h duration. Physical examination showed confusion, bilateral pupillary light reflex delays, hypertonia of limbs, and brisk tendon reflexes of the limbs. Brain magnetic resonance imaging (MRI) showed multiple abnormal signals in the bilateral basal ganglia, lobes, corpus callosum, brainstem, and brain atrophy. However, his condition continued to worsen. Computed tomography performed 3 months later showed severe subdural hematoma and effusion. Subsequently, he underwent puncture drainage; however, his condition did not improve postoperatively. Repeated MRIs showed increasing subdural hematoma and effusion, and brain atrophy. The patient was diagnosed with BTBGD following whole-genome sequencing, which identified a novel compound heterozygous mutation of SLC19A3 gene. He was treated with biotin and thiamine, and the symptoms gradually improved. Subsequent MRIs showed a decrease in the subdural hematoma and effusion and partial improvement in brain atrophy.Conclusion: To the best of our knowledge, this is the first reported case of BTBGD, complicated by severe subdural hematoma. These observations extend our understanding of the clinical features, neuroimaging spectrum, and gene mutation spectrum of BTBGD. The phenotypic spectrum and pathophysiology of BTBGD are not completely understood and need to be studied further. [ABSTRACT FROM AUTHOR]
Copyright of International Journal of Neuroscience is the property of Taylor & Francis Ltd and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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  Label: Title
  Group: Ti
  Data: Case report: biotin-thiamine-responsive basal ganglia disease with severe subdural hematoma on magnetic resonance imaging.
– Name: Author
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  Data: <searchLink fieldCode="AR" term="%22Huang%2C+Huasheng%22">Huang, Huasheng</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Jiang%2C+Hongliang%22">Jiang, Hongliang</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Yang%2C+Mingxiu%22">Yang, Mingxiu</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gao%2C+Yujuan%22">Gao, Yujuan</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Cao%2C+Liming%22">Cao, Liming</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22International+Journal+of+Neuroscience%22">International Journal of Neuroscience</searchLink>. 2024, Vol. 134 Issue 2, p184-192. 9p.
– Name: Subject
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  Data: <searchLink fieldCode="DE" term="%22Basal+ganglia+diseases%22">Basal ganglia diseases</searchLink><br /><searchLink fieldCode="DE" term="%22Magnetic+resonance+imaging%22">Magnetic resonance imaging</searchLink><br /><searchLink fieldCode="DE" term="%22Pupillary+reflex%22">Pupillary reflex</searchLink><br /><searchLink fieldCode="DE" term="%22Whole+genome+sequencing%22">Whole genome sequencing</searchLink><br /><searchLink fieldCode="DE" term="%22Cerebral+atrophy%22">Cerebral atrophy</searchLink><br /><searchLink fieldCode="DE" term="%22Subdural+hematoma%22">Subdural hematoma</searchLink><br /><searchLink fieldCode="DE" term="%22Agenesis+of+corpus+callosum%22">Agenesis of corpus callosum</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Background: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare, treatable autosomal recessive neurometabolic disorder. This condition eventually leads to severe disability and death if not treated correctly. The clinical features of BTBGD, especially those with unusual complications, are not widely known by neurologists or pediatricians.Case presentation: A 4-month-old male infant was admitted to the hospital with a history of cough for the past 7 days and convulsions of 6 h duration. Physical examination showed confusion, bilateral pupillary light reflex delays, hypertonia of limbs, and brisk tendon reflexes of the limbs. Brain magnetic resonance imaging (MRI) showed multiple abnormal signals in the bilateral basal ganglia, lobes, corpus callosum, brainstem, and brain atrophy. However, his condition continued to worsen. Computed tomography performed 3 months later showed severe subdural hematoma and effusion. Subsequently, he underwent puncture drainage; however, his condition did not improve postoperatively. Repeated MRIs showed increasing subdural hematoma and effusion, and brain atrophy. The patient was diagnosed with BTBGD following whole-genome sequencing, which identified a novel compound heterozygous mutation of SLC19A3 gene. He was treated with biotin and thiamine, and the symptoms gradually improved. Subsequent MRIs showed a decrease in the subdural hematoma and effusion and partial improvement in brain atrophy.Conclusion: To the best of our knowledge, this is the first reported case of BTBGD, complicated by severe subdural hematoma. These observations extend our understanding of the clinical features, neuroimaging spectrum, and gene mutation spectrum of BTBGD. The phenotypic spectrum and pathophysiology of BTBGD are not completely understood and need to be studied further. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of International Journal of Neuroscience is the property of Taylor & Francis Ltd and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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RecordInfo BibRecord:
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      – Type: doi
        Value: 10.1080/00207454.2022.2097080
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        Text: English
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      – SubjectFull: Basal ganglia diseases
        Type: general
      – SubjectFull: Magnetic resonance imaging
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      – SubjectFull: Pupillary reflex
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      – SubjectFull: Whole genome sequencing
        Type: general
      – SubjectFull: Cerebral atrophy
        Type: general
      – SubjectFull: Subdural hematoma
        Type: general
      – SubjectFull: Agenesis of corpus callosum
        Type: general
    Titles:
      – TitleFull: Case report: biotin-thiamine-responsive basal ganglia disease with severe subdural hematoma on magnetic resonance imaging.
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            NameFull: Huang, Huasheng
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            NameFull: Yang, Mingxiu
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            NameFull: Gao, Yujuan
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              Text: 2024
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              Y: 2024
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