Biotinidase deficiency in differential diagnosis of neuromyelitis optica spectrum disorder

BİLGE N., YEVGİ R.

Multiple Sclerosis and Related Disorders, vol.44, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 44
  • Publication Date: 2020
  • Doi Number: 10.1016/j.msard.2020.102280
  • Journal Name: Multiple Sclerosis and Related Disorders
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Keywords: Biotin, Biotinidase, Myelopathy, Neuromyelitis optica, SYMPTOMS, CRITERIA
  • Ataturk University Affiliated: Yes

Abstract

© 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.