Neuromyelitis optica spectrum disorder mimicking extensive leukodystrophy

Abstract

Brain MRI was originally considered to appear normal in neuromyelitis optica spectrum disorders (NMO-SD). Typical brain lesions are now well described and have been integrated in the latest revision of NMO-SD criteria, but the NMO-SD MRI pattern remains not yet comprehensive. We report here extensive white matter lesions (EWML) mimicking leukodystrophy in a 50-year-old woman with long-lasting anti-AQP4+ NMO-SD. We suggest that EWML could be a possible brain MRI presentation of NMO-SD patients.

A Little-Known Brain Imaging Feature in Neuromyelitis Optica Spectrum Disorder: A Leukodystrophy-Like Pattern

“…As indicated in Table 1, our case and the previous three NMOSD cases with a leukodystrophy-like MRI pattern were, overall, anti-AQP4-positive, long-standing NMOSD (disease duration ≥9 years), and mainly presented with either optic neuritis or myelitis with no or only a few encephalopathy and cerebellar symptoms, despite the presence of extensive brain white-matter lesions 234. An especially notable point is that all of them initially showed normal or only subtle brain MRI changes, indicating that leukodystrophy-like white-matter lesions are a feature of long-standing disease.…”

“…Our patient had Sjögren's syndrome, which may affect the occurrence of leukodystrophy-like white-matter lesions. Three cases of NMOSD with a leukodystrophy-like MRI pattern have been reported recently 234. One of these cases had Sjögren's syndrome, like our patient,3 but not the other two 24.…”

“…Three cases of NMOSD with a leukodystrophy-like MRI pattern have been reported recently 234. One of these cases had Sjögren's syndrome, like our patient,3 but not the other two 24. In addition, although some studies have found cerebral white-matter lesions in Sjögren's syndrome,67 leukodystrophy-like white-matter changes have not been reported previously.…”

“…Neuromyelitis optica spectrum disorder (NMOSD) presents with characteristic patterns of hemispheric white-matter lesions in magnetic resonance imaging (MRI), including tumefactive lesions, long spindle-like or radial-shape lesions following white-matter tracts, and asymmetric extensive and confluent hemispheric lesions 1. However, since bilateral symmetrical extensive white-matter lesions mimicking leukodystrophy have been previously reported in only three cases,234 its presence is not widely recognized. Here we report on a patient with anti-aquaporin-4 (anti-AQP4)-positive NMOSD who exhibited leukodystrophylike white-matter involvement.…”

Extensive bilateral brain lesions in neuromyelitis optica spectrum disorders

“…In this issue of Multiple Sclerosis Journal , Ciron et al 1 and Ishida et al 2 present two cases of neuromyelitis optica spectrum disorders (NMOSDs) with extensive bilateral subcortical and deep white matter lesions. Since the first diagnostic criteria of neuromyelitis optica (NMO) proposed by investigators at Mayo Clinic in 1999, 3 major advances in clinical and experimental research have been made that helped to better characterize and understand the clinical spectrum and pathophysiology of NMOSD.…”