CNS demyelination associated with immune dysregulation and a novel CTLA-4 variant.

BACKGROUND: The cytotoxic T-lymphocyte antigen-4 (CTLA-4) pathway acts as a negative immune regulator of T-cell activation and promotes self-tolerance. CASE: We report the first case of biopsy-proven central nervous system inflammatory demyelination in the context of primary immunodeficiency and a novel CTLA-4 variant. CONCLUSION: This case has significant implications for the development of novel treatments for autoimmune conditions including multiple sclerosis and further emphasises the need for caution with clinical use of CTLA-4 immune checkpoint inhibitors in those with a history of inflammatory demyelination.

Management of incidental unruptured intracranial aneurysms.

The widespread use of MR has led to the increasingly frequent diagnosis of unruptured incidental intracranial aneurysms. Most are small (<7 mm diameter) and will never rupture. Yet, their recognition causes much anxiety, and their optimal management remains controversial. This review addresses the difficulties in managing incidental unruptured saccular intracranial aneurysms. Note that our conclusions and recommendations do not apply to symptomatic unruptured aneurysms or to fusiform, dissecting, mycotic, traumatic and paediatric aneurysms, each of which has a different natural history.

Spinal cord arterio-venous malformations in children: a rare but important diagnosis.

Spinal cord arterio-venous malformations (AVMs) are rare and the diagnosis is often delayed or missed. We describe two cases presenting in different ways, as subarachnoid haemorrhage (SAH) or myelopathy. A catheter angiogram confirmed the diagnosis following which they were treated with coil occlusion or embolisation, or a combination of both, without any complications.

Perianeurysmal parenchymal cysts - Case series and literature review.

•Intracranial cysts are associated with a number of vascular lesions.•They predominantly occur in larger, partially-thrombosed aneurysms and in older patients.•There is a trend towards enlargement over time if untreated and a likelihood of recurrence following treatment.•We hypothesise the cysts arise either from dilated Virchow-Robin spaces and/or inflammatory processes.

Treatment of refractory neurosarcoidosis with Infliximab.

BACKGROUND: Neurological involvement in sarcoidosis is serious and often aggressive. Many patients respond to steroids but some show a progressive course despite treatment with steroids and even more potent immunosuppressive drugs. OBJECTIVE: The aim of this study was to describe our experience in the treatment of refractory neurosarcoidosis with Infliximab--its effect on the course of the disease and side effects. METHODS: A series of four patients are reported with neurosarcoidosis refractory to treatment with steroids combined with various immunosuppressive drugs in whom Infliximab was used. RESULTS: A good response, with improvement or stabilisation of the neurological condition, was seen in all cases, without significant side effects. Infliximab is a chimeric monoclonal antibody that neutralises the biological activity of tumour necrosis factor alpha, a cytokine thought to play an important role in the pathophysiology of sarcoidosis. CONCLUSION: Our experience using Infliximab adds to the growing evidence that it may fulfil a useful role in cases of refractory neurosarcoidosis.

Internal Carotid Artery Test Balloon Occlusion Using Single Photon Emission Computed Tomography Scan in the Management of Complex Cerebral Aneurysms and Skull Base Tumors: A 20-Year Review.

BACKGROUND: Test balloon occlusion (TBO) is important in the management of complex cerebrovascular and skull base lesions when permanent occlusion (PO) of a parent artery may be indicated. Several adjuncts may be used to increase the sensitivity of TBO to predict whether PO will be tolerated. This is an observational study to evaluate the utility of internal carotid artery (ICA) TBO using single photon emission computed tomography (SPECT) scan in the management of complex vascular pathology and skull base tumors. METHODS: All TBO procedures performed over a 20-year period were analyzed. Clinical assessment and angiographic collateral flow were combined with semi-quantitative cerebral blood flow analysis using 99mTc hexamethylpropylene-amine oxime SPECT scan during ICA TBO. Evaluation of collateral circulation after TBO, and the complications of TBO and the safety of PO after successful TBO were evaluated. RESULTS: Eighty-three patients underwent TBO without complication. Of 45 patients with satisfactory TBO, 28 proceeded to PO. Three patients developed transient ischemic symptoms thought to be embolic in origin. Thirty-eight patients had unsatisfactory TBO, of whom 15 required PO accompanied by a bypass procedure. Forty patients in the series did not undergo permanent vessel occlusion. CONCLUSIONS: SPECT scan-enhanced TBO is an important component of the management of complex vascular pathology and skull base tumors, permitting safe PO of the parent vessel and definitive treatment of the main pathology.

Reversible cerebral vasoconstriction syndrome presenting with haemorrhage.

Reversible cerebral vasoconstriction syndromes are characterized by prolonged but reversible vasoconstriction of the cerebral arteries, presenting typically with thunderclap headache, with or without focal neurological signs or symptoms. They resemble primary central nervous system vasculitis but it is critical to differentiate these two entities. Here we draw attention to intracranial haemorrhage as an important and not uncommon clinical feature in reversible cerebral vasoconstriction syndrome. Four patients with reversible cerebral vasoconstriction syndrome, each presenting to a single unit with intracranial haemorrhage, are described. These descriptions of haemorrhage at presentation of RCVS extend the recognised clinical phenotype and so help to enhance recognition and diagnosis of this often unconsidered disorder.

Sneddon Syndrome: A Case Report Exploring the Current Challenges Faced with Diagnosis and Management.

Sneddon syndrome (SS) is a rare medium-vessel vasculopathy which characteristically presents with livedo racemosa (LR) and complications such as strokes. This case report describes a female presenting acutely with a stroke and, initially, no evidence of LR. Her antiphospholipid antibodies were negative, and her neuroimaging revealed multiple territory strokes with extensive vasculopathy and fragile neo-formed vessel collateralisation. She had progressive memory loss and multiple transient ischaemic attacks on a background of established infarctions. SS should be considered in any idiopathic medium-vessel vasculopathy despite the absence of LR. Medical therapy can be challenging and the importance of antiphospholipid status in risk stratifying anticoagulation against antiplatelet therapy is discussed with a proposed rheumatology management strategy. The medical option of hydroxychloroquine should be considered in all patients in view of its anti-thrombotic properties and efficacy in diseases such as systemic lupus erythematosus and antiphospholipid syndrome with the suggestion that SS may be a forme fruste of these diseases. Neurosurgical options should be considered for recurrent transient neurological symptoms. For our patient, this included an extracranial to intracranial bypass via a radial artery graft for haemodynamic stroke management confirmed on SPECT imaging. The traditional hallmark of SS has previously been LR. This case highlights an atypical presentation stressing the importance of diagnostic vigilance in a patient with an idiopathic medium-vessel vasculopathy, together with balancing the medical risk of antiplatelet therapy, anticoagulation and thrombolysis whilst revealing possible neurosurgical options in select SS patients.

Memory loss resulting from fornix and septal damage: impaired supra-span recall but preserved recognition over a 24-hour delay.

Despite increasing evidence that the fornix is important for memory, uncertainty remains about the exact nature of subsequent impairments arising from damage to this tract. This uncertainty is often created by pathology in additional brain structures. The present study involved a young man, DN, who had almost complete bilateral loss of the rostral columns of the fornix and much of the surrounding septum in the left hemisphere following the surgical removal of a cavernous angioma. Quantitative MRI analyses of structure size, normalized to intracranial volume, showed no difference in any of the additional brain regions measured, apart from those areas removed to expose the tumor. DN showed a marked, stable anterograde memory impairment that was still present 4 years postsurgery. In contrast, DN performed within normal levels on most tests of recognition memory. This sparing was most striking when given a 24-hr delay between study and test of the Warrington Recognition Memory Test. This recall/recognition dissociation provides further evidence for neuroanatomical divisions within recognition memory processes.

Ruptured vertebrobasilar aneurysm associated with giant cell arteritis in a young boy.

Intracranial aneurysms are rare in early childhood and there is little published information on their histology. We report a young boy who died of subarachnoid haemorrhage, 29 months after coiling of a giant vertebrobasilar aneurysm. Histology of the aneurysm revealed intramural inflammation with giant cells and fragmentation of the internal elastic lamina. The findings highlight the need for detailed examination in such cases, to elucidate the pathogenesis and pathology of cerebrovascular aneurysms in this age group.