Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood.

Abstract

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.

• Authors: Laure Bottin, Sabine Prud'hon, Stéphanie Guey, Claire Giannesini, Barry Wolf, Kirit Pindolia, Bruno Stankoff
• Journal: Multiple sclerosis (Houndmills, Basingstoke, England) (Mult Scler) Vol. 21 Issue 12 Pg. 1604-7 (Oct 2015) ISSN: 1477-0970 [Electronic] England
• PMID: 26203071 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © The Author(s), 2015.

Topics

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