Neuromyelitis optica with extensive active brain involvement: an autopsy study.

OBJECTIVE

To describe the clinical, molecular, and neuropathological findings of a patient with aquaporin 4-positive relapsing myelitis who developed extensive brain involvement followed by death.

DESIGN

Case report.

SETTING

Foothills Medical Center, Calgary, Alberta, Canada.

PATIENT

A 51-year-old woman with neuromyelitis optica spectrum disorder.

RESULTS

Neuropathological examination disclosed neuromyelitis optica lesions, even in areas that appeared normal radiologically and grossly. Immunostaining confirmed the massive disintegration of astrocytes in the acute and chronic lesions, indicating that astrocytes are targeted early in the disease process. Induction of the immune response was demonstrated by reverse-transcriptase polymerase chain reaction analysis of relevant immune response genes.

CONCLUSIONS

This article supports and supplements current concepts of astrocyte disintegration in neuromyelitis optica and of immune mechanisms in its pathogenesis.