Study Title:

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

Study 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.

© The Author(s), 2015.
KEYWORDS:

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

Study Information


Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood.
Mult Scler.
2015 October

Full Study

http://www.ncbi.nlm.nih.gov/pubmed/26203071