Background and Aims

Primary CNS Vasculitis (PCNSV) is a rare inflammatory disorder affecting the blood vessels of the central nervous system. Patients present with a combination of headaches, seizures, and focal neurological deficits. There is usually a diagnostic delay. Treatment is based on observational studies and expert opinion. We aim to identify clinical, laboratory, neuroimaging, pathologic or management-related associations with 2 year outcome in patients with PCNSV.

Methods

All cases proven to have PCNSV by brain biopsy or cerebral angiogram from January 2010-July 2019 were included. Data before 2018 were retrospectively gathered. Clinical, imaging, histopathologic findings, treatment, and functional outcomes were recorded. Univariate and stepwise multiple logistic regression were applied to find independent predictors of good functional outcome (mRS 0-2) at 2 years. P-value<0.05 was considered statistically significant.

Results

Eighty-two biopsy and/or angiographically proven PCNSV cases were enrolled. The median age at presentation was 34 years with male preponderance and median diagnostic delay of 23 months. Most patients presented with seizures (70.7%). All patients had haemorrhages on MRI. Histologically lymphocytic subtype was commonest. Corticosteroids with cyclophosphamide was most commonly medication used. The median mRS at 2 year follow-up was 2 (0-3); 65.2% patients achieved a good outcome. Myelitis and longer duration of illness before diagnosis had poorer outcomes.

Conclusions

We describe the third largest PCNSV cohort. The presence of hemorrhages on SWI sequence of MRI might be a sensitive imaging marker. Treatment with steroids and another immunosuppressant probably reduced relapse rates in our cohort. Multi-centre randomised controlled trials are required to study the relative efficacy of various immunosuppressants.

Background and Aims

Genetic stroke syndromes are extremely rare and clinically heterogeneous.

Methods

A case series of four patients is described.

Results

Patient 1: A 34 years-old male developed sudden vertigo and ataxia, with torsional nystagmus and left cerebellar signs. MRI brain showed multiple small pontine and cerebellar acute infarcts. MR angiography revealed bilateral vertebral artery dissection. Clinical exome sequencing (CES) demonstrated a likely pathogenic heterozygous variant in the MYLK gene, confirming the diagnosis of famililal thoracic aortic aneurysm, type 7.

Patient 2: A 41 years-old female presented with a single seizure, followed by a persistent neurobehavioral syndrome. MRI brain showed bilateral frontal gyral T2/FLAIR hyperintensities with restricted diffusion. Mitochondrial genetics showed a pathogenic variant in the MT-TL1 gene, confirming mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).

Patient 3: A 39 years-old male developed acute onset aphasia. He had frontal balding and joint hyperlaxity. MRI brain showed acute and chronic infarcts in bilateral middle cerebral artery territories, with intracranial vasculopathy. CES revealed a variant in the ABCC6 gene, suggesting pseudoxanthoma elasticum.

Patient 4: A 25 years-old male presented with recurrent episodes of binocular painless vision loss for 18 months, and behavioural issues. He also had recently detected diabetes, and seizures. MRI showed multifocal gyral swelling and hyperintensity. CSF lactate was elevated. Mitochondrial genetic sequencing showed a pathogenic variant in the MT-TL1 gene, confirming MELAS.

None of the patients had positive family history.

Conclusions

Genetic stroke syndromes are diverse. In the presence of appropriate clinical-radiological features, absence of family history must not deter from genetic testing.

Background and Aims

Stroke is a leading cause of death and disability globally. Social media platforms (SMP) enable users to generate content, provide high-level interaction, and permit integration with other sites. Their omnipresence and popularity, along with an interactive formant, enable SMPs to potentially serve as powerful tools for engagement and education, and research for persons with stroke and their caregivers. In this systematic review, we aimed to explore the scope of SMP in care and research among persons with stroke.

Methods

PubMed database was searched using Medical Subject Headings terms and exploded keywords. The search retrieved 556 abstracts, which were screened by two reviewers. Of these, 13 studies met the review inclusion criteria. Given the small number of studies and heterogeneity of outcomes, quantitative analysis was not possible.

Results

Studies described the use of YouTube (n=5), Twitter (n=5), Facebook (n=2), and both Facebook and Twitter (n=1). Four studies assessed quality and accuracy of videos available on Youtube for stoke patients and caregivers. Three studies used social media to research links between role of gender and stroke descriptors on social media platforms, and one studied Twitter-derived racial/ethnic perceptual construction on the occurrence of cardiovascular disease. Three studies described use of social media by stroke survivors, in post-stroke care and engagement.

Conclusions

Limited preliminary data indicates that social media is used by persons with stroke and their caregivers, and may be harnessed as a tool of education and research. Future studies must address the current lack of high-quality evidence for the use of social media in stroke care.