Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood. (October 2015)

• Record Type: Journal Article
• Authors: Bottin, Laure; Prud'hon, Sabine; Guey, Stéphanie; Giannesini, Claire; Wolf, Barry; Pindolia, Kirit; Stankoff, Bruno
• Is Part Of: Multiple sclerosis. Volume 21:Number 12(2015)
• Page Start: 1604
• Page End: 1607
• Publication Date: 2015-10
• Subjects: Biotinidase deficiency -- neuromyelitis optica -- newborn screening -- myelopathy -- scotoma; Central nervous system -- Diseases -- Periodicals; Myelin sheath -- Diseases -- Periodicals; Inflammation -- Periodicals; Multiple sclerosis -- Periodicals; Central Nervous System Diseases -- Periodicals; Demyelinating Diseases -- Periodicals; Inflammation -- Periodicals; Multiple Sclerosis -- Periodicals; Système nerveux central -- Maladies -- Périodiques; Gaine de myéline -- Maladies -- Périodiques; Inflammation (Pathologie) -- Périodiques; Sclérose en plaques -- Périodiques; Electronic journals; 616.834005
• DOI: 10.1177/1352458515596457
• Languages: English
• ISSNs: 1352-4585

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.