Biotinidase deficiency in differential diagnosis of neuromyelitis optica spectrum disorder

Bilge, Nuray; Yevgi, Recep

doi:10.1016/j.msard.2020.102280

Makale Tam Makale Uluslararası 2020

Biotinidase deficiency in differential diagnosis of neuromyelitis optica spectrum disorder

Nuray Bilge, Recep Yevgi

MULTIPLE SCLEROSIS AND RELATED DISORDERS Cilt 44 · 01.09.2020

DOI ile aç

Özet

© 2020 Elsevier B.V.We present a case of biotinidase deficiency mimicking neuromyelitis optica spectrum disorder (NMOSD) with tetraparesis and transverse myelitis, who was diagnosed with profound biotinidase deficiency after developing optic atrophy and hearing loss before the age of one year, and was untreated for six months. Biotinidase deficiency should be considered in the differential diagnosis of seronegative NMOSD.

Anahtar kelimeler

SYMPTOMS CRITERIA Biotin Biotinidase Myelopathy Neuromyelitis optica

Atıf için künye

Bilge, N., & Yevgi, R. (2020). Biotinidase deficiency in differential diagnosis of neuromyelitis optica spectrum disorder. MULTIPLE SCLEROSIS AND RELATED DISORDERS, 44. https://doi.org/10.1016/j.msard.2020.102280

BibTeX

@article{bilge2020-237823,
  author = {Bilge, Nuray and Yevgi, Recep},
  title = {Biotinidase deficiency in differential diagnosis of neuromyelitis optica spectrum disorder},
  journal = {MULTIPLE SCLEROSIS AND RELATED DISORDERS},
  year = {2020},
  volume = {44},
  issn = {2211-0348},
  doi = {10.1016/j.msard.2020.102280},
  url = {https://akademik.atauni.edu.tr/yayinlar/237823-biotinidase-deficiency-in-differential-diagnosis-of-neuromyelitis-optica}
}