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Resident & Fellow Section
January 19, 2023
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Child Neurology: Infantile Biotin Thiamine Responsive Basal Ganglia Disease
Case Report and Brief Review

Kayli Maney, MD, Carolyn Pizoli, MD, PhD, and Jeffrey B. Russ, MD, PhDAuthors Info & Affiliations
April 25, 2023 issue
100 (17) 836-839
https://doi.org/10.1212/WNL.0000000000206832
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Information & Authors

Information

Published In

Neurology®
Volume 100 • Number 17 • April 25, 2023
Pages: 836-839
PubMed: 36657988

Copyright

© 2023 American Academy of Neurology.

Publication History

Received: August 30, 2022
Accepted: December 5, 2022
Published online: January 19, 2023
Published in print: April 25, 2023

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Disclosure

The authors report no disclosures relevant to the manuscript. Go to Neurology.org/N for full disclosures.

Study Funding

The authors report no targeted funding.

Authors

Affiliations & Disclosures

Kayli Maney, MD
From the Child Neurology Residency Program (K.M.), Department of Pediatrics, Duke University Medical Center, Durham, NC; and Department of Pediatrics (C.P., J.B.R.), Division of Pediatric Neurology, Duke University School of Medicine, Durham, NC.
Disclosure
Scientific Advisory Boards:
1.
None
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
None
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
None
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Carolyn Pizoli, MD, PhD
From the Child Neurology Residency Program (K.M.), Department of Pediatrics, Duke University Medical Center, Durham, NC; and Department of Pediatrics (C.P., J.B.R.), Division of Pediatric Neurology, Duke University School of Medicine, Durham, NC.
Disclosure
Scientific Advisory Boards:
1.
None
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
None
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
None
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Jeffrey B. Russ, MD, PhD
From the Child Neurology Residency Program (K.M.), Department of Pediatrics, Duke University Medical Center, Durham, NC; and Department of Pediatrics (C.P., J.B.R.), Division of Pediatric Neurology, Duke University School of Medicine, Durham, NC.
Disclosure
Scientific Advisory Boards:
1.
None
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
None
Editorial Boards:
1.
Jeffrey Russ served on the Editorial Team of the Neurology Resident and Fellow Section from 2019 until 2022.
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
1) NINDS CNCDP K12, 5K12NS098482-05, PI, 2021-2024
Research Support, Academic Entities:
1.
1) Duke School of Medicine Strong Start Physician Scientist Award, PI, 2022-2025 2) Duke Department of Pediatrics Derfner Foundation Faculty Research Award, PI, 2021-2022
Research Support, Foundations and Societies:
1.
None
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author

Notes

Correspondence Dr. Russ [email protected]
Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
Submitted and externally peer reviewed. The handling editor was Resident and Fellow Deputy Editor Ariel Lyons-Warren, MD, PhD.

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Cited By
    • Fatemeh Norouzi Rostami,
    • Hossein Sadeghi,
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    Identification of novel mutations in TPK1 and SLC19A3 genes in families exhibiting thiamine metabolism dysfunction syndrome, Heliyon, 10, 6, (e27434), (2024).https://doi.org/10.1016/j.heliyon.2024.e27434
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    Metabolic decompensation in an infant or child, Neurogenetics for the Practitioner, (145-149), (2024).https://doi.org/10.1016/B978-0-323-99417-0.00025-2
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    • Fatima Dashti,
    • Dana Marafi,
    • Buthaina Albash,
    • Laila Bastaki,
    • Hind Alsharhan,
    Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants, Orphanet Journal of Rare Diseases, 18, 1, (2023).https://doi.org/10.1186/s13023-023-02888-y
    Crossref
    • Gurnoor Lail,
    • Susan Blaser,
    • Michal Inbar-Feigenberg,
    An unusually mild case of biotin-thiamine-responsive basal ganglia disease, Molecular Genetics and Metabolism Reports, 37, (101004), (2023).https://doi.org/10.1016/j.ymgmr.2023.101004
    Crossref

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