Biotinidase deficiency: A treatable cause of opticospinal syndrome in young adults ✰ .

Autor: Van Iseghem V; Ghent University Hospital, Department of Neurology, Corneel Heymanslaan 10, 9000 Ghent, Belgium. Electronic address: vincent.vaniseghem@uzgent.be., Sprengers M; Ghent University Hospital, Department of Neurology, Corneel Heymanslaan 10, 9000 Ghent, Belgium., De Zaeytijd J; Ghent University Hospital, Department of Ophthalmology, Corneel Heymanslaan 10, 9000 Ghent, Belgium., Sindic CJM; Polyclinique de Louvain-la-Neuve, UCL, Rue du Traité de Rome 5 1348 Louvain, Belgium., Willekens B; Antwerp University Hospital, Department of Neurology, Wilrijkstraat 10, 2650 Edegem, Belgium; University of Antwerp, Faculty of Medicine and Health Sciences, Laboratory of Experimental Hematology and Translational Neurosciences, Campus Drie Eiken D.T.635, Universiteitsplein 1, 2610 Antwerp, Belgium., Dermaut B; Ghent University Hospital, Center for Medical Genetics, Corneel Heymanslaan 10, 9000 Ghent, Belgium., Hemelsoet D; Ghent University Hospital, Department of Neurology, Corneel Heymanslaan 10, 9000 Ghent, Belgium., Laureys G; Ghent University Hospital, Department of Neurology, Corneel Heymanslaan 10, 9000 Ghent, Belgium.
Jazyk: angličtina
Zdroj: Multiple sclerosis and related disorders [Mult Scler Relat Disord] 2019 Jul; Vol. 32, pp. 64-65. Date of Electronic Publication: 2019 Apr 24.
DOI: 10.1016/j.msard.2019.04.025
Abstrakt: Diagnosis of biotinidase deficiency is rare and usually made in infancy, through newborn screening or after presenting symptoms. We present the case of 19-year old male with progressive optic atrophy and in a second phase spinal cord syndrome unresponsive to immunosuppressive therapies. After diagnosis of profound biotinidase deficiency, oral biotin substitution was started with partial visual improvement and normalization of gait. This case highlights the possibility of late-onset biotinidase deficiency and its treatable character.
(Copyright © 2019 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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