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

Autor:	Bottin L; Department of Neurology, Saint-Antoine University Hospital, Paris, France., Prud'hon S; Department of Neurology, Saint-Antoine University Hospital, Paris, France., Guey S; Department of Neurology, Saint-Antoine University Hospital, Paris, France., Giannesini C; Department of Neurology, Saint-Antoine University Hospital, Paris, France., Wolf B; Department of Research Administration, Henry Ford Hospital, Detroit, USA/Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, USA., Pindolia K; Department of Research Administration, Henry Ford Hospital, Detroit, USA/Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, USA., Stankoff B; Department of Neurology, Saint-Antoine University Hospital, Paris, France/Sorbonne Universités; UPMC Univ Paris 06; UMR S 1127; CNRS UMR 7225; ICM, F-75013, Paris, France bruno.stankoff@sat.aphp.fr.
Jazyk:	angličtina
Zdroj:	Multiple sclerosis (Houndmills, Basingstoke, England) [Mult Scler] 2015 Oct; Vol. 21 (12), pp. 1604-7. Date of Electronic Publication: 2015 Jul 22.
DOI:	10.1177/1352458515596457
Abstrakt:	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. (© The Author(s), 2015.)
Databáze:	MEDLINE
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