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

Jonathan D Santoro; Kelli C Paulsen

doi:10.1001/jamaneurol.2020.3558

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

JAMA Neurol. 2020 Oct 5;78(1):118-120. doi: 10.1001/jamaneurol.2020.3558. Online ahead of print.

Authors

Jonathan D Santoro^{1

2}, Kelli C Paulsen¹

Affiliations

¹ Division of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California.
² Department of Neurology, Keck School of Medicine at the University of Southern California, Los Angeles.

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.