Biotinidase Deficiency as a Mimic of Neuromyelitis Optica Spectrum Disorder in Childhood.

Santoro, Jonathan D; Paulsen, Kelli C · JAMA Neurol · 2020

case_report · Level V

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Abstract

This study details a case of biotinidase deficiency mimicking neuromyelitis optica spectrum disorders and reviews prior cases of biotinidase deficiency that met Wingerchuck 2015 criteria for neuromyelitis optica spectrum disorder.