Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood

Mult Scler. 2015 Oct;21(12):1604-7. doi: 10.1177/1352458515596457. Epub 2015 Jul 22.


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 (18)F-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.

Keywords: Biotinidase deficiency; myelopathy; neuromyelitis optica; newborn screening; scotoma.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Biotinidase Deficiency / complications*
  • Biotinidase Deficiency / diagnosis
  • Humans
  • Male
  • Neuromyelitis Optica / diagnosis
  • Optic Nerve Diseases / diagnosis
  • Optic Nerve Diseases / etiology*
  • Spinal Cord Diseases / diagnosis
  • Spinal Cord Diseases / etiology*
  • Young Adult