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Mult Scler. 2015 Oct;21(12):1604-7. doi: 10.1177/1352458515596457. Epub 2015 Jul 22.

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

Author information

1
Department of Neurology, Saint-Antoine University Hospital, Paris, France.
2
Department of Research Administration, Henry Ford Hospital, Detroit, USA/Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, USA.
3
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.

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.

KEYWORDS:

Biotinidase deficiency; myelopathy; neuromyelitis optica; newborn screening; scotoma

PMID:
26203071
DOI:
10.1177/1352458515596457
[Indexed for MEDLINE]

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