Search

BackgroundPACNS is a rare and heterogeneous disorder with many uncertainties regarding management and outcomes. Published adult UK series total just 20 patients.MethodHospital record search of an adult tertiary neurosciences centre identified 14 cases of PACNS from 1033 potential cases over 20 years.ResultsAll 14 cases were ‘definite’ by Calabrese Criteria (1988), confirmed by brain biopsy in 8/14 and by angiography in 6/14.The median age of onset was 52 years and most presented with focal deficits (86%), headache (36%) and cognitive change (29%). MRI showed multifocal deep white matter change in 86% and infarcts in 50%. Gadolinium enhancement was seen in 43%. Two patients had solitary ring-enhancing lesions and one patient had signs of cord ischaemia. CSF was abnormal in 90%.All patients received corticosteroids, 11/14 cyclophosphamide, 3/14 Mycophenolate Mofetil, 3/14 Methotrexate and 2/14 Azathioprine. At 13.3 months median follow-up, all but the two patients with solitary lesions remained on immunosuppression. Clinical relapses occurred in 30% and radiological relapse in one case despite immunosuppression.Only 62% had a favorable outcome (mRS 0–2). One patient died as a direct consequence of PACNS and one patient died due to co-morbidities.ConclusionPACNS remains a treatable neuroinflammatory disease with poor outcomes.

BackgroundSusac’s syndrome (SS) is a rare, autoimmune microangiopathy causing a triad of branch retinal artery occlusions, sensorineural hearing loss and brain lesions. Published data on immunotherapy and outcomes is very limited.MethodSingle centre case note review. Electronic hospital records between 1996 and 2017 were searched. 277 possible cases were reviewed.Results3 cases (2 female, 1 male) with the full SS triad were identified. Median age of disease onset was 35.2 years with headache (n=3), confusion (n=1), hearing loss (n=3), vertigo (n=2) and visual field loss (n=2). Time from onset to diagnosis with the full triad was 3–23 months. MRIs showed characteristic corpus callosum involvement. All patients received high-dose corticosteroids as acute therapy. Case 1 was treated with Mycophenolate Mofetil (MMF) and Prednisolone for 27 months, and followed up for a further 8 months. She remained relapse-free. Case 2 relapsed on steroid-reduction, so received Rituximab followed by MMF and Prednisolone. She has now been stable for 14 months. Case 3 was intolerant to high-dose corticosteroids, Cyclophoshamide and MMF. He relapsed off treatment then commenced Azathioprine. Duration on Azathioprine is 14 months with one further relapse.ConclusionSS is rare but causes significant morbidity. Recognition of characteristic findings and early immunotherapy improves outcomes.

BackgroundCervico-medullary spinal cord lesions are usually inflammatory (or rarely neoplastic). Dural arteriovenous fistula (DAVF) is considered very unlikely in the cervical cord, particularly if the history is of an acute myelopathy.MethodCase note review of five patients with skull base DAVF.ResultsAll were men aged 60–69 years. Four were symptomatic for a month or less, followed by acute deterioration over hours-7days, mimicking myelitis. MRIs showed extensive T2-hyperintensity and swelling in the cervico-medullary region. Worsening after corticosteroids occurred in 3/4 patients and one needed ventilation. Conspicuous and unambiguous cord-surface vessels were present in only one patient. Clinical suspicion prompted digital subtraction angiography (DSA) in the other four patients. Median time from initial MRI to diagnostic DSA and embolization was 28 days (7–91 days). All patients survived with good clinical recovery.Systematic retrospective review of MRIs showed lack of gadolinium enhancement in 4/5. CSF examination (n=4) showed normal leucocyte count in all cases and elevated protein concentration in 3/4 (0.6–1.2 g/L).ConclusionSkull base DAVF can mimic acute cervical myelitis. Steroids may prompt life-threatening clinical deterioration mistaken for ascending myelitis. A low threshold for angiography in the context of non-enhancing lesions and acellular CSF will facilitate earlier diagnosis and improve outcomes.