Rare causes of stroke

(1) Background: Non-stenotic complicated plaques are a neglected cause of stroke, in particular in young patients. Atherosclerosis has some preferential sites in extracranial arteries and the prepetrous segment of the internal carotid artery has been rarely described as site of atheroma in general and of complicated atheroma in stroke patients. The aim of this study is to describe the rate of the prepetrous internal carotid artery's (ICA) involvement in a single-center case series of young stroke patients. (2) Methods: All patients < 50 years old with acute ischemic stroke admitted to a single-center Stroke Unit during two time periods (the first one from 1 January 2018 to 31 December 2019, and the second one from 1 January 2021 to 30 June 2022), were prospectively investigated as part of a screening protocol of the Searching for Explanations for Cryptogenic Stroke in the Young: Revealing the Etiology, Triggers, and Outcome (SECRETO) study [ClinicalTrials...

Primary bone lymphoma of the scapula is a rare tumor that usually causes local pain. The presented patient suffered for two years from paresthesia, tingling, numbness, and edema of the little and ring fingers. The 45-year-old man underwent several radiological and neurological assessments of the palm, elbow, and neck before radiographs revealed a tumor of the left shoulder. Once diffuse large B-cell lymphoma was confirmed, immunochemotherapy with rituximab, cyclophosphamide, doxorubicin, vincristine, and methylprednisolone (R-CHOP) started...

INTRODUCTION: Central poststroke pain (CPSP) places a huge burden on patient lives because patients are often refractory to conventional strategies and have little chance for spontaneous recovery. A subset of patients is even given approval for euthanasia and is without any perspective. Because the anterior cingulate cortex historically seems to be a promising target for patients with both mental and chronic pain disorders, lesioning of this central "hub" with cingulotomy may be a useful strategy for medically refractory CPSP...

Illusory neuropsychiatric symptoms such as hallucinations or the feeling of a presence (FOP) can occur in diffuse brain lesion or dysfunction, in psychiatric diseases as well as in healthy individuals. Their occurrence due to focal brain lesions is rare, most probably due to underreporting, which limits progress in understanding their underlying mechanisms and anatomical determinants. In this single case study, an 86-year-old patient experienced, in the context of an acute right central opercular ischemic stroke, visual hallucinatory symptoms (including palinopsia), differently lateralized auditory hallucinations and FOP...

Listeria monocytogenes is a Gram-positive bacillus that presents a tropism for the central nervous system (CNS). In fact, CNS involvement occurs in over two-thirds of infections caused by this agent. Meningitis is the most common manifestation, while brain abscess is rare. We present the case of a 77-year-old male patient on corticosteroid treatment for bronchiolitis obliterans organizing pneumonia with a history of unpasteurized cheese consumption, who presented with fever and altered mental status. Brain computerized tomography scan revealed left frontal cortico-subcortical hypodensity mimicking an ischemic stroke...

Background: Carotid webs are nonatherosclerotic fibrous bands that may alter hemodynamic flow and increase the risk of platelet aggregation, leading to thromboembolism in young, otherwise healthy individuals. Although rare, carotid webs are important causes of thromboembolic strokes and are often overlooked in the routine workup for a stroke. Treating physicians and radiologists must recognize and properly manage patients who present with carotid webs to prevent recurrent thromboembolism. Case Report: A healthy 30-year-old female presented with slurred speech and unilateral left upper and lower extremity numbness...

BACKGROUND: GAA-FGF14 disease/spinocerebellar ataxia 27B is a recently described neurodegenerative disease caused by (GAA)≥250 expansions in the fibroblast growth factor 14 (FGF14) gene, but its phenotypic spectrum, pathogenic threshold, and evidence-based treatability remain to be established. We report on the frequency of FGF14 (GAA)≥250 and (GAA)200-249 expansions in a large cohort of patients with idiopathic downbeat nystagmus (DBN) and their response to 4-aminopyridine...

BACKGROUND: Giant axonal neuropathy is a rare, autosomal recessive, pediatric, polysymptomatic, neurodegenerative disorder caused by biallelic loss-of-function variants in GAN , the gene encoding gigaxonin. METHODS: We conducted an intrathecal dose-escalation study of scAAV9/JeT-GAN (a self-complementary adeno-associated virus-based gene therapy containing the GAN transgene) in children with giant axonal neuropathy. Safety was the primary end point. The key secondary clinical end point was at least a 95% posterior probability of slowing the rate of change (i...

KEY CLINICAL MESSAGE: MELAS is a disorder with clinical variability that also responsible for a significant portion of unexplained hereditary or childhood-onset hearing loss. Although patients typically present in childhood, the first stroke-like episode can occur later in life in some patients, potentially related to a lower heteroplasmy level. It is crucial to consider MELAS as a potential cause of stroke-like events if age at presentation and symptoms are atypical, especially among middle-aged patients without vascular risk factors...

A 60-year-old male patient presented with ischemic-embolic stroke. Transesophageal echocardiography revealed the cause to be aortic valve endocarditis with highly eccentric aortic valve regurgitation. The blood cultures taken several times remained sterile. The indication for surgical aortic valve replacement was made. Conventional microbiological work-up of the heart valve did not reveal any pathogens. The additional molecular genetic testing using eubacterial PCR ("polymerase chain reaction" [PCR]) finally demonstrated the presence of Tropheryma whipplei...

The abducens nerve (sixth cranial nerve) is essential for lateral eye movement, and its malfunction can cause a variety of issues with vision. Pseudo-abducens palsy is a rare neurological condition that causes a limitation in eye abduction, while the abducens nerve is still functioning. Thalamic pain syndrome, a severe complication of cerebrovascular events, presents as intense neuropathic pain provoked by temperature fluctuations. Although thalamic strokes are infrequently associated with ocular abnormalities, some studies suggest an association between isolated pseudo-abducens palsy and thalamic infarctions...

Papillary fibroelastoma (PFE) is a benign tumor that arises mostly from left-sided valves. PFE can cause stroke, and surgical resection may be needed. Lambl's excrescence (LE) is a filiform valvular lesion and is considered a possible cause of stroke. A 79-year-old man with light-headedness and left-sided hemiparesis was diagnosed with stroke. Transesophageal echocardiography (TEE) revealed a round-shaped mobile mass in the left ventricular outflow tract (LVOT), which was considered the cause of the stroke...

BACKGROUND: Moyamoya disease (MMD) is a rare disorder causing ischemic and hemorrhagic juvenile stroke. It is associated with the founder susceptibility variant p.R4810K in the RNF213 gene in East Asia. Our aim was to enhance understanding of MMD in so far poorly characterized Southeast Asians and exploring differences with Caucasian Europeans. METHODS: By retrospective analysis of medical records and systematic database search on PubMed for all published cases, we identified Southeast Asian patients with MMD...

Cardiovascular diseases are the third most common cause of death in the world. The most common are heart attacks and stroke. Cardiovascular diseases are a global problem monitored by many centers, including the World Health Organization (WHO). Atherosclerosis is one aspect that significantly influences the development and management of cardiovascular diseases. Photodynamic therapy (PDT) is one of the therapeutic methods used for various types of inflammatory, cancerous and non-cancer diseases. Currently, it is not practiced very often in the field of cardiology...

INTRODUCTION: Systemic infections are a common complication of cerebral stroke, while the development of a cerebral abscess on the background of infarcted brain tissue is an extremely rare occurrence. Here, we present a new case alongside a literature review. CASE PRESENTATION: A previously healthy 37-year-old man presented with sudden right-sided weakness and speech difficulties, progressing to complete aphasia. Initial tests showed no abnormalities, but subsequent CT scans revealed left basal ganglia infarction...

Paradoxical embolism is a medical condition characterized by the migration of an embolus from a venous source into the systemic circulation. This occurs through a specific cardiac abnormality known as a right-to-left shunt, ultimately resulting in the possibility of arterial embolism. Patent foramen ovale (PFO) is the most common cause of intracardiac shunting. We reported a rare case of a 56-year-old man on hemodialysis with PFO and arteriovenous fistula dysfunction who suffered a paradoxical embolic ischemic stroke after percutaneous transluminal angioplasty...

Moyamoya syndrome, known as secondary moyamoya disease, is associated with various primary illnesses, such as brain tumor, meningitis, autoimmune disease, and thyrotoxicosis, and their relations are not clear. We report a rare case of moyamoya syndrome in a patient with Graves' disease. An 18-year-old woman was admitted to our hospital due to convulsions. She had symptoms of palpitations and fatiguability for half a year and transient numbness in her left upper extremity and dysarthria for a month. In physical findings, tachycardia and diffuse thyroid swelling were noted...

INTRODUCTION: Aspergillus flavus is a common cause of aspergillosis. CASE PRESENTATION: A previously fit and well, immunocompetent 27-year-old male living in Australia developed disseminated A. flavus complex infection with mediastinal and cardiac invasion, superior vena cava obstruction and stroke, with fatal haemorrhagic transformation. CONCLUSION: Aspergillus Flavus is a rare but important cause of serious disease in the immunocompetent...

Spinal subdural haemorrhage or haematoma (SSDH) is a rare condition that is often overlooked and missed on initial presentation due to its non-specific features that may mimic other more common pathologies. It is associated with high morbidity and mortality rates, with few evidence-based management principles, particularly during the subacute stages of recovery. In this report, we detail a case of SSDH associated with exercise and anticoagulation therapy, which was complicated by acute ischaemic stroke. SSDH should be suspected in cases of acute back pain without a clear alternative cause, particularly in coagulopathic individuals...

BACKGROUND: Amiodarone is an established treatment for atrial fibrillation (AF) but might interfere with the metabolism of apixaban or warfarin. Therefore, the aim was to investigate the occurrence of major bleeding among patients with AF treated with amiodarone in combination with apixaban or warfarin. METHODS: Retrospective observational study using Swedish health registers. All patients with AF in the National Patient Register and the National Dispensed Drug Register with concomitant use of amiodarone and warfarin or apixaban between 1 June 2013 and 31 December 2018 were included...