Skip to main content
SpringerLink
Log in

Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome

  • Case Report
  • Chapter
  • First Online:
JIMD Reports - Case and Research Reports, Volume 13

Part of the book series: JIMD Reports ((JIMD,volume 13))

Abstract

Biotin-responsive basal ganglia disease (BBGD) is an autosomal recessive disorder, which is caused by mutations in the SLC19A3 gene. BBGD typically causes (sub)acute episodes with encephalopathy and subsequent neurological deterioration. If untreated, the clinical course may be fatal. Our report on a 6-year-old child with BBGD highlights that the disease is a crucial differential diagnosis of Leigh syndrome. Therefore, biotin and thiamine treatment is recommended for any patient with symmetrical basal ganglia lesions and neurological symptoms until BBGD is excluded. In addition, we exemplify that deformation-field-based morphometry of brain magnetic resonance images constitutes a novel quantitative tool, which might be very useful to monitor disease course and therapeutic effects in neurometabolic disorders.

Competing interests: None declared

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
eBook
USD 16.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  • Alfadhel M, Almuntashri M, Jadah RH 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 J Rare Dis 8:83

    Article  PubMed Central  PubMed  Google Scholar 

  • Baertling F, Rodenburg RJ, Schaper J, et al (2013) A guide to diagnosis and treatment of Leigh syndrome. J Neurol Neurosurg Psychiatry Jun 14. [Epub ahead of print]. doi:10.1136/jnnp-2012-304426

  • Caspers S, Eickhoff SB, Geyer S et al (2008) The human inferior parietal lobule in stereotaxic space. Brain Struct Funct 212:481–495

    Article  PubMed  Google Scholar 

  • Debs R, Depienne C, Rastetter A et al (2010) Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. Arch Neurol 67:126–130

    Article  PubMed  Google Scholar 

  • Ozand PT, Gascon GG, Al Essa M et al (1998) Biotin-responsive basal ganglia disease: a novel entity. Brain 121:1267–1279

    Article  PubMed  Google Scholar 

  • Pieperhoff P, Südmeyer M, Hömke L, Zilles K, Schnitzler A, Amunts K (2008) Detection of structural changes of the human brain in longitudinally acquired MR images by deformation field morphometry: methodological analysis, validation and application. NeuroImage 43:269–287

    Article  CAS  PubMed  Google Scholar 

  • Subramanian VS, Marchant JS, Said HM (2006) Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. Am J Physiol Cell Physiol 291:C851–C859

    Article  CAS  PubMed  Google Scholar 

  • Tabarki B, Al-Shafi S, Al-Shahwan S et al (2013) Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings. Neurology 80:261–267

    Article  PubMed  Google Scholar 

  • Zeng WQ, Al-Yamani E, Acierno JS Jr et al (2005) Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet 77:16–26

    Article  CAS  PubMed Central  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children’s Hospital, Heinrich-Heine University, Moorenstr. 5, D-40225, Düsseldorf, Germany

    Felix Distelmaier, Ertan Mayatepek & Michael Karenfort

  2. Department of Pediatrics and Pediatric Neurology, Faculty of Medicine, Georg August University, Göttingen, Germany

    Peter Huppke

  3. Research Centre Jülich, Institute of Neuroscience and Medicine-INM-1, Jülich, Germany

    Peter Pieperhoff

  4. C. and O. Vogt Institute for Brain Research, Heinrich-Heine University, Düsseldorf, Germany

    Katrin Amunts

  5. Department of Diagnostic and Interventional Radiology, Heinrich-Heine University, Düsseldorf, Germany

    Jörg Schaper

  6. Hayward Genetics Center, Tulane University Medical School, New Orleans, LA, USA

    Eva Morava

  7. Center for Human Genetics, Freiburg, Germany

    Jürgen Kohlhase

Authors
  1. Felix Distelmaier
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Peter Huppke
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Peter Pieperhoff
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Katrin Amunts
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Jörg Schaper
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Eva Morava
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Ertan Mayatepek
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Jürgen Kohlhase
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Michael Karenfort
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Felix Distelmaier .

Editor information

Editors and Affiliations

  1. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  2. Clinical Pharmacology Unit, WSU Division of Health Sciences, Spokane, USA

    K. Michael Gibson

  3. Department of Biochemistry Genetics Unit, University of Oxford, Oxford, United Kingdom

    Garry Brown

  4. Department of Pediatrics IGMD, Tulane University Medical Center, New Orleans, Louisiana, USA

    Eva Morava

  5. Center for Child and Adolescent Medicine Heidelberg University Hospital, Heidelberg, Germany

    Verena Peters

Additional information

Communicated by: Wolfgang Sperl

Electronic Supplementary Material

Below is the link to the electronic supplementary material.

323239_1_En_271_MOESM1_ESM.zip

Supplementary Fig. 1 Single voxel spectroscopy during acute metabolic crisis, demonstrating an intense lactate peak at 1.35 ppm and a reduced N-acetyl-aspartate peak

Appendices

Synopsis

Biotin and thiamine treatment is lifesaving in patients with biotin-responsive basal ganglia disease.

Compliance with Ethics Guidelines

Conflict of Interest

Felix Distelmaier, Peter Huppke, Peter Pieperhoff, Katrin Amunts, Jörg Schaper, Eva Morava, Ertan Mayatepek, Jürgen Kohlhase, and Michael Karenfort declare that they have no conflict of interest.

Informed Consent

Additional informed consent was obtained from all patients, for which identifying information is included in this article.

Animal Rights

This article does not contain any studies with animal subjects performed by any of the authors.

Rights and permissions

Reprints and permissions

Copyright information

© 2013 SSIEM and Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Distelmaier, F. et al. (2013). Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome. In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports - Case and Research Reports, Volume 13. JIMD Reports, vol 13. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2013_271

Download citation

  • DOI: https://doi.org/10.1007/8904_2013_271

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-54148-3

  • Online ISBN: 978-3-642-54149-0

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation