Open access
Sep 2026
When the mimic meets reality: AQP4-IgG seroconversion in a patient with profound biotinidase deficiency presenting with an NMOSD- like phenotype
A 16-year-old girl with an NMOSD-like phenotype and longitudinally extensive transverse myelitis who was initially AQP4-IgG–negative and diagnosed with profound biotinidase deficiency is described, illustrating that a metabolic disorder may coexist with, rather than solely mimic, NMOSD.
Yavuz Ataş, Ünsal Yılmaz, Fehime Erdem et al.
· Neurology Asia · 0 citations