Biotin-responsive basal ganglia disease

A treatable differential diagnosis of leigh syndrome

Felix Distelmaier, Peter Huppke, Peter Pieperhoff, Katrin Amunts, Jörg Schaper, Eva Morava-Kozicz, Ertan Mayatepek, Jürgen Kohlhase, Michael Karenfort

Research output: Chapter in Book/Report/Conference proceedingChapter

16 Citations (Scopus)

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.

Original languageEnglish (US)
Title of host publicationJIMD Reports
PublisherSpringer
Pages53-57
Number of pages5
DOIs
StatePublished - Jan 1 2014
Externally publishedYes

Publication series

NameJIMD Reports
Volume13
ISSN (Print)2192-8304
ISSN (Electronic)2192-8312

Fingerprint

Leigh Disease
Biotin
Differential Diagnosis
Thiamine
Brain Diseases
Therapeutic Uses
Basal Ganglia
Magnetic Resonance Spectroscopy
Magnetic resonance
Mutation
Deterioration
Biotin-responsive basal ganglia disease
Brain
Genes

Keywords

  • Brain magnetic resonance imaging
  • Leigh syndrome
  • SLC19A3 gene
  • Vasogenic edema
  • Ventral globus pallidus

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Biochemistry, Genetics and Molecular Biology (miscellaneous)

Cite this

Distelmaier, F., Huppke, P., Pieperhoff, P., Amunts, K., Schaper, J., Morava-Kozicz, E., ... Karenfort, M. (2014). Biotin-responsive basal ganglia disease: A treatable differential diagnosis of leigh syndrome. In JIMD Reports (pp. 53-57). (JIMD Reports; Vol. 13). Springer. https://doi.org/10.1007/8904_2013_271

Biotin-responsive basal ganglia disease : A treatable differential diagnosis of leigh syndrome. / Distelmaier, Felix; Huppke, Peter; Pieperhoff, Peter; Amunts, Katrin; Schaper, Jörg; Morava-Kozicz, Eva; Mayatepek, Ertan; Kohlhase, Jürgen; Karenfort, Michael.

JIMD Reports. Springer, 2014. p. 53-57 (JIMD Reports; Vol. 13).

Research output: Chapter in Book/Report/Conference proceedingChapter

Distelmaier, F, Huppke, P, Pieperhoff, P, Amunts, K, Schaper, J, Morava-Kozicz, E, Mayatepek, E, Kohlhase, J & Karenfort, M 2014, Biotin-responsive basal ganglia disease: A treatable differential diagnosis of leigh syndrome. in JIMD Reports. JIMD Reports, vol. 13, Springer, pp. 53-57. https://doi.org/10.1007/8904_2013_271
Distelmaier F, Huppke P, Pieperhoff P, Amunts K, Schaper J, Morava-Kozicz E et al. Biotin-responsive basal ganglia disease: A treatable differential diagnosis of leigh syndrome. In JIMD Reports. Springer. 2014. p. 53-57. (JIMD Reports). https://doi.org/10.1007/8904_2013_271
Distelmaier, Felix ; Huppke, Peter ; Pieperhoff, Peter ; Amunts, Katrin ; Schaper, Jörg ; Morava-Kozicz, Eva ; Mayatepek, Ertan ; Kohlhase, Jürgen ; Karenfort, Michael. / Biotin-responsive basal ganglia disease : A treatable differential diagnosis of leigh syndrome. JIMD Reports. Springer, 2014. pp. 53-57 (JIMD Reports).
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