Case Report: Unilateral relapsing primary central nervous system vasculitis-expanding the phenotype.

BACKGROUND

Unilateral relapsing primary central nervous system vasculitis (UR-PCNSV) is a scarcely reported subtype of PCNSV. It is characterised by frequent relapses with lesions confined to a single hemisphere. Herein, we expand the phenotype of UR-PCNSV, adding three cases to the existing 13 in the literature.

METHOD

A retrospective review of clinic databases at two adult tertiary referral centres in New South Wales, Australia, was undertaken to identify cases of UR-PCNSV. Predefined inclusion criteria were (1) biopsy-proven PCNSV, (2) lesions confined to a single hemisphere, and (3) two or more relapses as evidenced by new enhancing lesions on MRI.

RESULTS

Three cases of biopsy-proven UR-PCNSV were identified. All demonstrated three or more relapses with new lesions confined to the same hemisphere. The mean age was 34.5 (± 8.6) years, and the median delay to diagnosis was 12 months (IQR 7.5-21). Headache was the first symptom in all patients, and they developed unilateral motor and sensory deficits. Cognitive impairment was a prominent feature in one and none developed seizures. CT and/or MR angiography showed normal results. MRI head showed both subcortical and cortical lesions with parenchymal and leptomeningeal enhancement. The protein level was normal in all patients, and one had a mildly raised white cell count (9 × 10/L). Biopsy in all three demonstrated a T-cell predominant perivascular lymphocytic infiltrate with areas of transmural inflammation and infarct-like necrosis. Despite treatment with anti-CD20 monoclonal antibodies, relapses occurred after steroid withdrawal in all. Prolonged steroid with additional immunosuppression was required to maintain remission. All patients demonstrated hemiatrophy within 12 months of presentation.

CONCLUSION

Compared with typical PCNSV, this rare unilateral, relapsing subtype has a younger age of onset, lower prevalence of angiographic abnormalities, and frequent relapses. Our patients had persisting lesion enhancement despite anti-CD20 mAb monotherapy and demonstrated hemiatrophy within the first year, indicating high inflammatory activity and a requirement for additional immunosuppression. This case series additionally highlights the overlapping clinical and radiological features of PCNSV and CNS demyelination, which may contribute to diagnostic delay.