Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood

Laure Bottin, Sabine Prud'hon, Stéphanie Guey, Claire Giannesini, Barry Wolf, Kirit Pindolia, Bruno Stankoff*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

23 Scopus citations


Background: Children with untreated biotinidase deficiency can experience variable symptoms depending on their age of presentation. Older children and adolescents can exhibit predominant neurological deficits including para- or tetraparesis and vision loss. Methods: We report the first case of delayed-onset biotinidase deficiency in a young adult. Results: A 22-year-old man presented with a disabling extensive myelopathy and bilateral optic neuropathy which mimicked the findings of a (seronegative) neuromyelitis optica. Imaging investigations were characterized by an MRI T2 hyper-intensity involving the spinal cord, the optic nerves, the fornix and the mammillar bodies, together with an increased 18F-FDG uptake on positron emission tomography. He was ultimately shown to have profound biotinidase deficiency due to a novel missense mutation and was partly improved by oral biotin therapy. Conclusion: This individual exemplifies the need to include biotinidase deficiency in the differential diagnosis of patients with extensive myelopathy and/or bilateral optic neuropathy and argues for newborn screening for the disorder.

Original languageEnglish (US)
Pages (from-to)1604-1607
Number of pages4
JournalMultiple Sclerosis
Issue number12
StatePublished - Oct 1 2015


  • Biotinidase deficiency
  • myelopathy
  • neuromyelitis optica
  • newborn screening
  • scotoma

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


Dive into the research topics of 'Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood'. Together they form a unique fingerprint.

Cite this