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- W2373620900 abstract "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.We report the first case of delayed-onset biotinidase deficiency in a young adult.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.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." @default.
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- W2373620900 date "2015-07-22" @default.
- W2373620900 modified "2023-10-18" @default.
- W2373620900 title "Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood" @default.
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- W2373620900 doi "https://doi.org/10.1177/1352458515596457" @default.
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