Journal
MULTIPLE SCLEROSIS JOURNAL
Volume 21, Issue 12, Pages 1604-1607Publisher
SAGE PUBLICATIONS LTD
DOI: 10.1177/1352458515596457
Keywords
Biotinidase deficiency; neuromyelitis optica; newborn screening; myelopathy; scotoma
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Funding
- programme 'Investissements d'avenir' [ANR-10-IAIHU-06]
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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 F-18-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.
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