Biotinidase Deficiency as a Mimic of Neuromyelitis Optica Spectrum Disorder in Childhood
Author:
Affiliation:
1. Division of Neurology, Department of Pediatrics, Children’s Hospital Los Angeles, Los Angeles, California
2. Department of Neurology, Keck School of Medicine at the University of Southern California, Los Angeles
Publisher
American Medical Association (AMA)
Subject
Neurology (clinical)
Link
https://jamanetwork.com/journals/jamaneurology/articlepdf/2771172/jamaneurology_santoro_2020_ld_200010_1610037452.70428.pdf
Reference6 articles.
1. Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: a treatable disease.;Girard;Mult Scler,2017
2. Biotinidase deficiency presenting as recurrent myelopathy in a 7-year-old boy and a review of the literature.;Raha;Pediatr Neurol,2011
3. Spinal cord demyelination associated with biotinidase deficiency in 3 Chinese patients.;Yang;J Child Neurol,2007
4. Delayed-onset profound biotinidase deficiency.;Wolf;J Pediatr,1998
5. A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency.;Yilmaz;Metab Brain Dis,2017
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1. Atypical presentation of biotinidase deficiency: masquerading neuromyelitis optica spectrum disorder;BMJ Case Reports;2024-07
2. Biotin Homeostasis and Human Disorders: Recent Findings and Perspectives;International Journal of Molecular Sciences;2024-06-14
3. Relapsing White Matter Disease and Subclinical Optic Neuropathy;Neurology Neuroimmunology & Neuroinflammation;2024-03
4. Optic Neuropathy and Myelopathy in a Teenager With Biotinidase Deficiency;Journal of Neuro-Ophthalmology;2024-02-07
5. Limbic System and Optic Nerve Diffusion Restriction in a Child with Biotinidase Deficiency;Annals of Child Neurology;2023-10-01
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