搜索结果：Case reports in neurology

Enteric infectious diseases claim more than 1 million lives annually and are among the top ten causes of death in children younger than 5 years. Remarkable global investment has been dedicated to enteric infectious disease prevention and control; however, the shifting global health landscape is testing the continuance of progress. To evaluate the current status and guide future interventions, we present the latest epidemiological estimates of enteric infectious diseases from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2023 and assess progress towards the Global Action Plan for the Prevention and Control of Pneumonia and Diarrhoea (GAPPD) mortality target of fewer than 20 deaths per 100 000 children younger than 5 years by 2025. We quantified the incidence, mortality, and disability-adjusted life-years (DALYs) of enteric infectious diseases by age, sex, and year across 204 countries and territories from 1990 to 2023. In GBD 2023, the following were considered under the category of enteric infectious diseases: diarrhoeal diseases, enteric fever (typhoid and paratyphoid), invasive non-typhoidal Salmonella spp (iNTS) infections, and other intestinal infectious diseases. We also examined 15 aetiologies contributing to diarrhoeal diseases. Incidence and prevalence were estimated with DisMod-MR (version 2.1), a Bayesian meta-regression tool, drawing on data from systematic reviews, population-based surveys, claims data, and hospital sources. Cause-specific mortality was modelled with Cause of Death Ensemble Modelling based on data from sources including vital registration, mortality surveillance, verbal autopsy, and minimally invasive tissue sampling. Years of life lost and years lived with disability were computed and combined to derive DALYs. For aetiology-specific estimation, population-attributable fractions (PAFs) for 15 pathogens were derived with a counterfactual framework. Point estimates and 95% uncertainty intervals (UIs) were generated from 250 draws from the posterior distribution. In 2023, enteric infectious diseases resulted in an estimated 1·27 million (95% UI 0·963-1·68) deaths globally, declining from 3·69 million (3·04-4·56) in 1990. The global age-standardised mortality rate (ASMR) decreased from 74·1 (62·0-92·9) per 100 000 population to 16·4 (12·6-21·3) per 100 000 population during the same period. Diarrhoeal diseases accounted for most deaths in 2023 (1·11 million [0·811-1·54]), followed by enteric fever and iNTS. South Asia and sub-Saharan Africa remained the most affected regions in 2023, with 599 000 (441 000-882 000) and 501 000 (373 000-648 000) deaths due to enteric infectious diseases, respectively, predominantly from diarrhoeal disease. Rotavirus was the leading cause of all-age diarrhoeal disease deaths (PAF 16·3% [12·0-21·5]), followed by norovirus (10·2% [2·4-17·0]) and Shigella spp (9·3% [5·4-15·2]). Among children younger than 5 years, PAFs of deaths due to diarrhoeal diseases were 40·2% (32·5-48·5) for rotavirus, 24·0% (15·1-36·7) for Shigella spp, and 23·4% (13·7-34·3) for adenovirus. Across 204 countries and territories, 141 met the GAPPD mortality target in 2023. The driving aetiologies among countries that did not meet the target in 2023 varied slightly by GBD super-region, but the highest or second-highest number of deaths in children younger than 5 years were consistently attributed to rotavirus. Astrovirus and sapovirus, newly included in GBD 2023, were responsible for 24 600 (6290-49 000) and 18 800 (4650-44 400) deaths, respectively, in 2023, mainly in children younger than 5 years. Our findings show that mortality and ASMRs of enteric infectious diseases declined substantially between 1990 and 2023. This decline is consistent with the expansion of public health measures and broader socioeconomic development. However, the burden in 2023 remains considerably high, with the highest mortality concentrated in sub-Saharan Africa and south Asia. Considering that more than a quarter of all countries had yet to meet the GAPPD mortality target in 2023, sustained efforts are needed to address the persistent burden in affected countries and to adapt to the changing global health landscape. Gates Foundation.

Mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder caused by mutations in mitochondrial DNA, most commonly the m.3243A>G variant. This mutation impairs oxidative phosphorylation, leading to inadequate cellular energy production, particularly in high-demand tissues such as the brain and muscles. The resultant energy deficit manifests as neurological and muscular dysfunction, including stroke-like episodes, seizures, and lactic acidosis. Twin brothers presented with heterogeneous clinical characteristics. The elder twin experienced seizures, blurred vision, hypertrichosis, exercise intolerance, and had learning difficulties since age 10. The younger twin developed hearing loss at age 12, followed by persistent epileptic seizures 3 months later. Both had a history of progressive neurological and multisystemic symptoms suggestive of a metabolic disorder. Diagnostic evaluations included electroencephalography (EEG), which showed widespread mixed high-amplitude slow waves, and cranial magnetic resonance imaging, which revealed migratory lesions that changed with recurrent episodes. Genetic testing confirmed the m.3243A>G mutation in both twins. Their mother was identified as an asymptomatic carrier with an estimated heteroplasmy level of 30.79%. The elder twin was initially treated with acyclovir (antiviral) and methylprednisolone (anti-inflammatory) for suspected viral encephalitis, with symptomatic support. After genetic confirmation of MELAS, supportive therapies included coenzyme Q10, adenosine triphosphate disodium, levocarnitine, and arginine. During recurrent admissions for status epilepticus, antiepileptic regimens were maintained or adjusted, and imaging (magnetic resonance imaging/electroencephalogram) was repeatedly used for monitoring. His brother received similar interventions - levetiracetam, coenzyme Q10, and adenosine triphosphate disodium - upon diagnosis, with additional management for seizures, headaches, and gastrointestinal symptoms. Both twins were definitively diagnosed with MELAS syndrome. The elder twin was diagnosed first based on clinical and genetic findings, while the younger twin was diagnosed after the emergence of hearing loss and seizures. The condition highlights the progressive and variable nature of MELAS. The case underscores the significant phenotypic heterogeneity of MELAS, which often leads to misdiagnosis or delayed diagnosis. Early genetic testing is critical for accurate identification and prompt intervention. Family screening is recommended due to the maternal inheritance pattern, and tailored management should address the multifaceted clinical manifestations.

Abdominal pain is an occasionally observed non-motor symptom during "off" periods in Parkinson's disease (PD), often associated with end-of-dose wearing-off (EODWO). However, severe abdominal manifestations such as painful abdominal contraction (PAC) are rare, and their pathogenesis remains unclear. We report a unique case in which both PAC and belly dancer's dyskinesia (BDD) emerged following subthalamic nucleus deep brain stimulation (STN-DBS). A 74-year-old woman with PD underwent bilateral STN-DBS. Following a postoperative reduction in her levodopa dosage, she developed continuous abdominal pain with a downward-pulling sensation, which was diagnosed as PAC. Symptoms worsened in upright positions and improved supine. With an increase in STN-DBS stimulation intensity, she subsequently developed wave-like involuntary contractions of the abdominal wall muscles, consistent with BDD, while her PAC remained unchanged. STN-DBS adjustments and dopaminergic agents other than levodopa provided only partial relief, with PAC showing minimal improvement. Restoration of the preoperative levodopa dosage led to marked alleviation of PAC. Additional STN stimulation effectively managed recurrent EODWO-related pain. Four months postoperatively, motor symptoms improved significantly, with only mild peak-dose BDD remaining. This case illustrates that PAC may result from reduced baseline dopamine levels and may not respond to STN-DBS alone. The co-occurrence of PAC and BDD suggests a complex interplay between motor and non-motor circuits, possibly involving spinal plasticity and central pattern generators. Clinicians should consider that some cases of severe abdominal pain in PD may represent distinct non-motor phenomena that appear to respond preferentially to levodopa administration.

Cryptococcosis is a fungal infection with frequent involvement of the central nervous system, particularly in patients immunocompromised by the human immunodeficiency virus (HIV). Its essential neurological presentation is meningoencephalitis, with exceptional spinal cord involvement. We present the case of an immunocompetent patient with myelitis and vasculitis caused by Cryptococcus. A 59-year-old male patient with diabetes mellitus presented with 2 weeks of lower limb weakness, vertigo, and urinary retention with subsequent loss of alertness. Magnetic resonance imaging confirmed a longitudinally extensive transverse myelitis, venous sinus thrombosis, and multiple cerebral infarcts involving the cerebellum, basal ganglia, and corpus callosum. Cerebrospinal fluid confirmed Cryptococcus fungal infection. Differential diagnoses (infectious, autoimmune, metabolic, demyelinating, and neoplastic) were excluded. Liposomal amphotericin and flucytosine treatment were started for 6 weeks, with partial improvement. Late primary immunodeficiency was diagnosed based on a low CD4+ count, excluding HIV in multiple instances. The patient continues with motor and sensory sequelae and hypoacusis. Myelitis of infectious origin is predominantly viral and bacterial. Spinal cord involvement by Cryptococcus is extremely unusual, and the literature is limited to case reports. This condition shows high heterogeneity in its presentation, being predominant in patients with immunocompetence. It can be associated with cryptococcomas and transverse or longitudinally extensive myelitis involving any spinal cord segment. The treatment duration and use of corticosteroids are still debatable. Few similar cases have been reported. Cryptococcus fungal infection should be included in the differential diagnosis of infectious myelopathies, even in patients without HIV infection.

Heat stroke is a life-threatening condition characterized by hyperthermia and central nervous system (CNS) dysfunction, and often leads to multiorgan damage. Both intestinal and neurological complications have been individually reported in severe cases of exertional heat stroke (EHS); however, their concurrent presentation is rare. We hereby report the case of a 48-year-old man with a history of untreated hypertension, who collapsed when working outdoors in hot and humid weather. He was brought in a comatose condition with hypotension and a core body temperature of 40.6°C. Initial whole-body computed tomography (CT) revealed intestinal edema. Brain CT indicated no abnormalities; however, magnetic resonance imaging (MRI) on Day 3 revealed diffusion-weighted imaging hyperintensities in the bilateral hippocampi and right putamen, consistent with hippocampal ischemia and lacunar infarction. Cognitive assessments using the Mini-Mental State Examination (MMSE), Frontal Assessment Battery (FAB), and Trail Making Test (TMT) identified persistent memory impairment and executive dysfunction. These findings correlated with the MRI report and corroborated the hippocampal and frontal-subcortical involvement. The putaminal infarct was attributed to microvascular vulnerability intensified by dehydration and hypercoagulability. This is the first reported case of EHS presenting with concurrent intestinal edema, hippocampal abnormalities, and lacunar infarction. Early systemic and neurological imaging, along with detailed neuropsychological assessment, are crucial for identifying the extent of CNS injury. Intestinal edema on early CT imaging may serve as a radiological marker of systemic endothelial injury and potential CNS involvement in severe EHS, thereby alerting clinicians to the possibility of intracranial complications.

Dementia characterized by the accumulation of argyrophilic grains (AGs) in neurons as sole neuropathology at autopsy is known as dementia with grains (DG). The clinical features of DG include progressive memory disturbances and behavioral changes. Recently however, cases of DG presenting with parkinsonism were also described. Here, we report the first case of DG mimicking dementia with Lewy bodies. A 72-year-old male patient was seen at our outpatient memory clinic with progressive complaints in multiple cognitive domains (memory, orientation, praxis, and executive function), fluctuations in arousal and behavioral changes. In addition, he reported neuropsychiatric symptoms, including a depressed mood and visual hallucinations. During neurological examination, he demonstrated bilateral rigidity and bradykinesia with a right-sided predominance. These symptoms in combination with decreased striatal uptake of tracer on a 123I-FP-CIT-SPECT scan led to the clinical diagnosis of probable mild dementia with Lewy bodies. Treatment was with rivastigmine, and levodopa/benserazide was initiated. Over the years, cognitive and motor function only slowly progressed. Autopsy was performed after passing. Neuropathological findings included dot-like and comma-shaped tau-positive structures, indicative of AGs, spread throughout the limbic but also the nigrostriatal system. No co-pathology and in particular no alpha-synucleinopathy was present. Consequently, patient's diagnosis was posthumously revised to DG. Here, we present the first known case of DG clinically mimicking dementia with Lewy bodies. Our findings support the notion that parkinsonism should be included in the clinical phenotype of DG and that DG should be considered more often as diagnosis, when the clinical presentation is atypical.

Epilepsy surgery remains underutilized despite strong evidence supporting its efficacy for appropriately selected patients with drug-resistant epilepsy (DRE). We describe the case of a 23-year-old woman with a 4-year history of refractory focal impaired awareness seizures, experiencing up to four episodes per week despite multiple trialed antiseizure medications at tolerated doses. Initial investigations including magnetic resonance imaging (MRI), EEG, and paraneoplastic screening were unremarkable, and she was managed as having non-lesional left temporal lobe epilepsy. As part of an artificial intelligence driven research initiative, a natural language processing based random forest algorithm reviewing neurology clinic documentation identified her as a potential surgical candidate. Complementary large language model analysis supported extraction of relevant seizure and imaging information. This prompted re-evaluation of the case, with PET demonstrating left temporal hypometabolism and repeat MRI revealing a previously unrecognized encephalocele. She subsequently underwent left temporal lobe polectomy with encephalocele disconnection. The procedure was successful, and she has remained seizure-free for 1 year postoperatively, allowing initiation of ASM weaning and the possibility of long-term cure. This case illustrates the transformative potential of epilepsy surgery for individuals with DRE and the promising role of artificial intelligence augmented triage systems in reducing delays to surgical referral. Given the morbidity, mortality, and economic burden associated with DRE, timely surgical evaluation should be considered the standard of care for eligible patients. Integrating artificial intelligence tools into clinical workflows may help overcome longstanding barriers to access and ensure that life-changing interventions are offered earlier in the disease course.

Hydrocephalus is an etiologically heterogeneous disorder that may result from acquired insults or monogenic causes. More than 100 genes have been implicated in congenital and early-onset hydrocephalus, but MAP7D3 has not previously been associated with disturbances of cerebrospinal fluid (CSF) circulation. We report an adult patient with obstructive hydrocephalus in whom a novel frameshift variant in MAP7D3 was identified by exome sequencing. A 38-year-old woman presented with a 6-month history of progressive predominantly occipital headache without nausea, vomiting, or diplopia. Neurological examination was normal, whereas neuro-ophthalmic assessment showed unilateral right optic disc swelling consistent with papilledema. Brain MRI demonstrated ventriculomegaly of the lateral and third ventricles with depression of the third-ventricle floor and a partially empty sella, without mass lesion, venous sinus thrombosis, or parenchymal abnormalities. Cine phase-contrast MRI revealed impaired CSF flow through the aqueduct, and there was no clinical or radiological evidence of prior intracranial hemorrhage or central nervous system infection. The patient had no relevant comorbidities, was not taking anticoagulants or antiplatelet agents, and reported no family history of hydrocephalus, macrocephaly, intraventricular hemorrhage, or monogenic neurodevelopmental disorders. Endoscopic third ventriculostomy performed in 04/2022 led to improvement in headache intensity (visual analogue scale 6 to 3) and a decrease in Evans index from 0.40 to 0.36 at 12-month follow-up, with stable ophthalmic findings at approximately 24 months. Research exome sequencing identified a novel frameshift variant in MAP7D3 (c.30_40delinsCGTCTCT; p.Gly11ValfsTer5), absent from population databases and predicted to result in loss of function. Based on ACMG/AMP criteria and the current literature, we classified this variant as a strong candidate variant of uncertain significance. This case illustrates how a carefully phenotyped adult patient with obstructive hydrocephalus and no identifiable acquired cause may benefit from exploratory exome sequencing, which can reveal rare variants in emerging candidate genes such as MAP7D3. Although a causal role for MAP7D3 loss-of-function in hydrocephalus has not yet been established, our findings support further functional studies and highlight the need for cautious interpretation of single-patient variants of uncertain significance.

Spinal cord infarction (SCI) is a rare but serious neurological emergency, accounting for only 1-2% of all neurovascular events and a small fraction of acute myelopathies. Etiologies are diverse and include systemic vascular risk factors, embolic events, and, in younger individuals, fibrocartilaginous embolism often triggered by minor trauma, among others. Magnetic resonance imaging (MRI) of the spine plays a central role in diagnosis when combined with clinical correlation and careful evaluation of potential predisposing factors. We report a case of a 14-year-old previously healthy female who presented with acute progressive bilateral lower limb weakness after she was suddenly pushed into a pool. Neurological examination showed complete paraplegia and decreased sensation, including fine touch, pinprick, and proprioception in both lower limbs, in addition to absent lower limb reflexes. Initial suspicion of Guillain-Barré syndrome was raised; however, it was ruled out based on normal CSF and nerve conduction studies. MRI of the spine subsequently revealed evidence of anterior SCI. SCI with spinal shock is a rare but important differential diagnosis in children presenting with acute flaccid paralysis. This case highlights the importance of maintaining a high index of suspicion, especially when initial investigations are inconclusive.

Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a steroid-responsive relapsing-remitting disorder of the central nervous system (CNS). However, CLIPPERS-like presentations have been increasingly recognized as potential early manifestations of underlying lymphoma, most commonly B-cell types. T-cell lymphomas in this context remain exceedingly rare. We report the first case of peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS), mimicking CLIPPERS with confirmatory brain biopsy. A 33-year-old man initially presented with pontocerebellar dysfunction and punctate gadolinium-enhancing hindbrain lesions, fulfilling diagnostic criteria for probable CLIPPERS. He achieved transient remission with corticosteroids but later developed relapsing neurological and pulmonary symptoms, radiological progression with supratentorial and spinal involvement including longitudinally extensive transverse myelitis (LETM), and steroid resistance. Despite nondiagnostic lung biopsy and the absence of malignant cells on cerebrospinal fluid (CSF) cytology, CSF circulating tumor DNA (ctDNA) analysis revealed pathogenic mutations in FAS and TET2. Stereotactic biopsy of a right frontal lesion ultimately confirmed PTCL-NOS. The patient's disease progressed despite chemotherapy, leading to death 6 months after diagnosis. This case highlights that CNS infiltration by PTCL-NOS can closely mimic CLIPPERS both clinically and radiologically. LETM may represent an additional warning feature in such presentations. Vigilance for clinical and radiologic red flags, the adjunctive use of CSF ctDNA analysis, and early reconsideration of diagnosis with timely biopsy should be emphasized to improve outcomes in patients with CLIPPERS-like syndromes.

Nitrous oxide is a widely available anaesthetic agent whose chronic use causes irreversible inactivation of vitamin B12, leading to subacute combined degeneration (SACD) of the spinal cord. While high-dose intramuscular B12 replacement often halts disease progression, complete neurological recovery is not always achieved. A 19-year-old Chinese male with a 3-month history of nitrous oxide use presented to the emergency department with acute lower-limb weakness and encephalopathy. Examination revealed mild upper-limb paresis, diminished deep tendon reflexes, and minimal voluntary movement in the legs. Laboratory studies showed pancytopenia, undetectable serum vitamin B12, and markedly elevated homocysteine. MRI of the brain and spine demonstrated generalised cerebral atrophy with white-matter foci and extensive hyperintensity throughout the upper spinal cord. Complications included bilateral pulmonary emboli and lower-limb deep venous thrombosis, managed initially with intravenous heparin followed by enoxaparin and a 6-month course of apixaban. The patient received high-dose intramuscular B12, oral methionine, thiamine, and supportive care for skin lesions. After a period of intense multidisciplinary rehabilitation, functional independence was restored, although not complete neurological recovery. This case illustrates that nitrous oxide-induced SACD can present with profound neurological dysfunction but responds favourably to prompt vitamin B12 replacement, combined with multidisciplinary rehabilitation.

Primary intramedullary spinal cord lymphoma (PISCL) is a significantly rare condition, accounting for <1% of all central nervous system lymphomas. PISCL has nonspecific clinical and radiological features that often mimic other inflammatory or demyelinating disorders. Thus, it remains challenging to diagnose. Herein, we report a 61-year-old male patient who initially presented with longitudinally extensive transverse myelitis. During the clinical course, the patient developed cerebral lesions. Despite yielding negative skin and bone marrow biopsy results, a definitive diagnosis of malignant lymphoma was ultimately established via brain biopsy. This case highlights the importance of considering PISCL in the differential diagnosis of acute myelitis, particularly in patients who respond poorly to immunomodulatory therapy or those who experience clinical recurrence. A comprehensive systemic evaluation, including serial brain imaging, is important in PISCL. In cases where abnormalities are detected, prompt and aggressive biopsy should be performed. Early diagnosis and timely initiation of appropriate therapy are essential for improving outcomes in patients with PISCL.

Homozygous mutations in the AGTPBP1 gene are associated with childhood-onset neurodegeneration and cerebellar atrophy (CONDCA). These mutations disrupt neuronal maintenance, leading to progressive motor and cognitive deficits. This case highlights the pathological findings and systemic complications in a 4.5-month-old boy with this rare genetic disorder. A 4.5-month-old boy presented with global developmental delay and progressively worsening floppiness of the body for the past 2 months. There was a history of similar illness in his previous sibling, who died at 2.5 months of age. The serum creatine kinase of the index child was mildly elevated. Antemortem muscle biopsy had revealed the presence of neurogenic atrophy. Peripheral blood count revealed persistent lymphopenia (ALC range: 1,270/&#x3bc;L to 2,482/&#x3bc;L). The child developed severe respiratory distress and succumbed to his illness at 5 months of age. The autopsy revealed the atrophy of cerebellar folia with a striking reduction of Purkinje and granular cells and preserved molecular layer. There was thinning of the corpus callosum and anterior horn cell degeneration in the spinal cord. Lung examination demonstrated fibrinous bronchitis, bronchiolitis, and pneumonia; a result of adenovirus infection confirmed by electron microscopy and PCR. The thymus was absent. Genetic testing identified a homozygous mutation in the AGTPBP1 gene (c2833C>T), confirming the diagnosis of CONDCA. This is the first autopsy description of CONDCA with detailed neuropathological evaluation. Although cerebellar atrophy is well known, this case reveals a wider neuropathological change and thymic aplasia in such patients. This case highlights the structural consequences of the AGTPBP1 gene-associated enzyme deficiency crucial for post-translational modifications of tubulin, resulting in the degeneration of specific sets of neurons and immune deficiency secondary thymic involvement.

Intravascular large B-cell lymphoma is a rare, fatal, aggressive lymphoma that is characterized by the proliferation of clonal lymphocytes within the lumen of small, medium, and large vessels. Diagnosis is challenging given the nonspecific initial presentation. Incidence is <1 case per 1 million per year worldwide. We report a case of intravascular large B-cell lymphoma in a 62-year-old female who presented to the clinic with symptoms of migraine with aura. MRI brain showed T2 hyperintensities in the splenium of the corpus callosum, right frontal, and bilateral parietal lobes, which progressed on repeat imaging. Laboratory studies only showed mild elevation of alanine aminotransferase to 75 (8-35 U/L). Computed tomography of the chest, abdomen, and pelvis showed splenomegaly but did not show lymphadenopathy or masses. She underwent a brain biopsy and was found to have intravascular large B-cell lymphoma and was transferred to a specialist oncological center to be started on R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone) chemotherapy. She passed away 7 months after the initial outpatient visit. The initial presentation of migraine with aura was not previously described. Nonspecific initial laboratory studies, preexisting Waldenstrom's macroglobulinemia which explained splenomegaly, absence of masses in the chest, abdomen, and pelvis, absence of lymphadenopathy, and MRI imaging mimicking multiple sclerosis made the diagnostic process exceedingly difficult. We demonstrate another presentation of this rare and fatal disease and hope that the reader will consider this differential diagnostic possibility when evaluating patients with rapidly worsening neurological symptoms.

Mineralizing angiopathy is a rare cause of pediatric stroke and has not previously been described in a Nordic European country. This case highlights the diagnostic value of CT imaging and the potential underdiagnosis of this condition in high-income countries. An 11-month-old previously healthy boy presented with acute left-sided hemiparesis, with a pediatric National Institutes of Health Stroke (pedNIHSS) score of nine. Initial CT revealed bilateral basal ganglia calcifications and tortuous internal carotid arteries. MRI confirmed an acute infarction in the right basal ganglia. The diagnosis of mineralizing angiopathy was made based on the neuroimaging findings, with sagittal CT views visualizing calcifications following the contours of deep perforating vessels. An extensive stroke workup, including cardiac and metabolic evaluations, was unremarkable. The patient received supportive care, was discharged with a pedNIHSS of five, and is under neurological follow-up. Mineralizing angiopathy may be underrecognized in pediatric stroke, particularly in settings where MRI is preferred over CT. Early CT imaging can aid diagnosis. Longitudinal follow-up may offer novel insights into the pathophysiology of vascular calcifications.

Cognard-type V arteriovenous fistulas are rare forms of dural arteriovenous malformations. This specific subtype is characterised by spinal venous drainage into peri-medullary veins, which presents as progressive or ascending myelopathy in 50% of cases. A 59-year-old man with 3 weeks of worsening quadriparesis, along with abnormal sensory findings, gait deterioration, and bowel and bladder dysfunction, was admitted to the hospital. MRI revealed extensive T2 hyper-intense signal changes in the brainstem and myelopathy in the cervical spinal cord extending down to C7. The differential diagnosis for extensive myelopathy and brainstem lesions seen on MRI included a tumour, autoimmune inflammation, and suspicion of vascular malformation. The administration of corticosteroids resulted in a worsening of the patient's neurological symptoms. Conventional angiography confirmed the presence of a dural AVF (a small arteriovenous short shunt receiving arterial supply from the middle meningeal and occipital artery) in the territory of the left external carotid artery. A minimally invasive endovascular treatment was successfully performed. We present this case considering that only 100 patients with Cognard type V fistula have been reported to date. Additionally, we aim to highlight the importance of caution when administering corticosteroids in cases of diagnostic uncertainty.

Current versatile treatments for acute vessel occlusion - whether arterial or venous - have significantly improved the success of recanalization. However, patients who present with unexplained thromboembolic events, including arterial and venous, especially in the absence of traditional risk factors, should undergo thorough evaluation for potential underlying causes, including malignancies. A 66-year-old man experienced deep vein thrombosis of the left femoral vein and underwent catheter-directed thrombolysis followed by rivaroxaban therapy. Two weeks later, he presented with acute drowsiness, right-sided hemiparesis, and left hemineglect. Brain magnetic resonance imaging revealed acute multiple infarcts. During hospitalization, laboratory findings indicated disseminated intravascular coagulation. Further evaluation showed a markedly elevated prostate-specific antigen level, prompting prostate magnetic resonance imaging, which revealed advanced prostate cancer with staging of cT4N1M1a. The diagnosis was confirmed by biopsy. Hormone therapy with degarelix was initiated. Atrial fibrillation also developed during the hospital stay, and apixaban was prescribed. The patient demonstrated continuous clinical improvement and achieved a modified Rankin Scale score of 2 at 9 months post-stroke. This case highlights the importance of thorough investigation in patients with unusual thromboembolic events, both arterial and venous. Timely diagnosis and treatment of underlying malignancy are crucial in preventing recurrence of cancer-related stroke.

BackgroundTo investigate whether epidemiological characteristics, including comorbidities, income, and education, have changed over time in people with cluster headache compared to controls.MethodsTrends in cardiopulmonary, neurological, and psychiatric comorbidities, and income and education categories, were assessed using linked data from Norwegian health registries for 2009-2022. Comorbidities were defined based on relevant diagnosis codes from both the primary and the specialist healthcare. Income was categorized based on the national median for each year. Education was assessed based on the International Classification Standard for Education. Each cluster headache case was matched with 20 controls without cluster headache. Prevalence rate ratios were calculated using generalized estimating equations.ResultsPeople with cluster headache had higher prevalence than matched controls without cluster headache in all examined comorbidities, particularly migraine (men: 9.8% versus 0.3%; women: 23.1% versus 1.6%), mood disorders (men: 6.7% versus 2.8%; women: 9.2% versus 4.9%), and pulmonary disorders (men: 3.0% versus 1.8%; women: 4.8% versus 2.3%). Hypertension, coronary heart disease, and psychiatric disorders in specific age- and sex groups increased more in people with cluster headache than in controls during the recording period. Low/medium income was more prevalent in people with cluster headache versus controls (men: 50.2% versus 42.2%; women: 51.4% versus 46.6%). Similarly, low/medium education was more prevalent in people with cluster headache than controls (men: 77.0% versus 65.1%; women: 65.0% versus 55.0%). The prevalence of low/medium education increased in young women during the recording period.ConclusionsPeople with cluster headache have a higher prevalence of comorbidities compared to matched controls, particularly migraine, mood disorders, and cardiopulmonary disease. Multiple comorbidities have increased in prevalence over time. Annual income and years of education were lower in people with cluster headache compared to matched controls. Cluster headache is a complex disease that requires specialist follow-up and individualized therapy.

Primary progressive aphasia (PPA) is a neurodegenerative disorder that causes a gradual decline in language function. While combining transcranial direct current stimulation (tDCS) with rehabilitation of speech and language disorders (SLD rehab) has shown promise, its effect on motor speech disorders such as dysarthria and apraxia of speech (AOS), common in nonfluent variant PPA (nfvPPA), has been unclear. This study used an N-of-1 crossover design to investigate the effects of SLD rehab-tDCS on articulation and vocalization in a 77-year-old male patient with nfvPPA, dysarthria, and AOS. In the intervention phase, intervention A (anodal tDCS over the left inferior frontal gyrus from the precentral regions, combined with SLD rehab) was compared with intervention B (sham stimulation with SLD rehab) across both short-term (single session) and long-term (12 sessions over 6 weeks) phases, with intervention A preceding B. In both the short- and long-term phases, the assessments of articulation and vocalization showed greater improvement following intervention A. The long-term intervention also led to improvements in general aphasia severity. Furthermore, brain perfusion SPECT imaging revealed increased blood flow in the left fronto-subcortical network. These preliminary findings from a single case suggest that SLD rehab-tDCS may have the potential to improve not only language but also speech motor functions in nfvPPA.