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Background: Holmes tremor (HT) is a rare motor disorder characterized by high-amplitude and low-frequency resting, intentional, and postural tremors. HT typically arises from disruptions in neural pathways, including the dopaminergic system. Its causes include cerebrovascular incidents, neoplasms, demyelination, and infections. Diagnosis involves thorough clinical, neurophysiological, and neuroimaging assessments. Our report details the clinical profile, neuroimaging and EEG results and levodopa treatment response of an HT patient after cerebral arteriovenous malformation (AVM) surgery. Case Report: A female patient who underwent AVM surgery developed head tremor and dystonia. Neuroimaging revealed left thalamus involvement. Video electroencephalography (EEG) revealed high-amplitude, low-frequency tremors. The patient responded well to levodopa treatment. Conclusions: Involuntary rhythmic or non-rhythmic movements are a primary clinical feature of HT. A differential diagnosis of epilepsy and HT can be achieved through neurophysiological monitoring, avoiding the overuse of antiepileptic drugs. Symptoms can be alleviated with levodopa intervention.

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INTRODUCTION: Social media has allowed patients with rare diseases to connect and discuss their experiences with others online. This study analyzed various social media platforms to better understand the patient's perception of arteriovenous malformation. METHODS: Twitter, Instagram, and TikTok were searched to find posts about patients' experiences with arteriovenous malformations (AVM). Posts unrelated to the patient's experience were excluded. Posts were coded for the relevant themes related to their experience with the disease, as well as engagement, and gender. RESULTS: The most common theme was raising awareness about the condition (87.0%). Recounting symptoms (50.2%), spreading positivity (17.5%), and survival (8.3%) were other common themes. Other prevalent themes were pain (5.2%) and fear of a rare disease (3.5%). Approximately half of AVM-related Instagram (47.93%) and TikTok (52.94%) posts raised awareness about the condition. Most Instagram (67.75%) and TikTok (89.71%) posts focused on recovery and rehabilitation. Most TikTok posts discussed "survival" or "death" (57.35%), while the majority focused on spreading positivity (79.41%). Most posts were made by women (69.6%). Females were more likely than males to post about the scientific explanation of AVMs (p = 0.003). CONCLUSION: Social media allows patients across the country and the globe to discuss their experiences with uncommon diseases and connect with others. It also allows AVM patients to share their experiences with other patients and the public.

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BACKGROUND: The rare co-occurrence of oligodendroglioma and arteriovenous malformation (AVM) in the same intracranial location. CASE SUMMARY: In a 61-year-old man presenting with progressive headaches, is described in this case study. Preoperative multimodal imaging techniques (computed tomography, magnetic resonance imaging, magnetic resonance spectroscopy, digital subtraction angiography, and computed tomography angiography) were employed to detect hemorrhage, cystic and solid lesions, and arteriovenous shunting in the right temporal lobe. The patient underwent right temporal craniotomy for lesion removal, and postoperative pathological analysis confirmed the presence of oligodendroglioma (World Health Organization grade II, not otherwise specified) and AVM. CONCLUSION: The preoperative utilization of multimodal imaging examination can help clinicians reduce the likelihood of misdiagnosis or oversight of these conditions, and provides important information for subsequent treatment. This case supports the feasibility of craniotomy for the removal of glioma with AVM.

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Introduction: Pelvic arteriovenous malformations are rare in male patients. We present a case of pelvic arteriovenous malformation involving the seminal vesicle. Case presentation: A 58-year-old man was diagnosed with pelvic arteriovenous malformation that involved the left seminal vesicle by angiography. The patient underwent three embolization procedures and made favorable progress after the embolizations. Conclusion: Herein, we report a rare case of pelvic arteriovenous malformation involving the seminal vesicle treated by embolizations with good outcome.

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Peripheral arteriovenous malformations (AVMs) are rare vascular anomalies characterized by abnormal connections between arteries and veins that bypass the capillary system. This case report details a three-year-old female child who presented with an enlarging swelling on her knee's medial side. AVM was diagnosed using computed tomography (CT) angiography and surgically excised. The case highlights the importance of early detection and timely intervention of AVMs to prevent complications.

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Purpose: This study aims to explore the impact of ultra-early neurological deterioration (U-END) on the outcome (mortality and poor neurological status) following a brain arteriovenous malformation (BAVM) rupture and identify determinants of U-END. Methods: Patients with BAVM ruptures admitted to a single tertiary care center were retrospectively reviewed. U-END was defined as a worsening by two or more points on the Glasgow Coma Scale (GCS). U-END was tested as a potential predictor of in-hospital mortality and poor outcomes. Univariate and multivariate analyses were performed to identify determinants of U-END. Patients with U-END were also matched and compared with BAVM rupture controls presenting with a GCS close or equal to either their initial or their lowest GCS. Results: A total of 248 patients with BAVM ruptures met the inclusion criteria, with 39 (15.7%) patients presenting with U-END. U-END was not associated with and was not an independent predictor of in-hospital mortality (12.8 vs. 10.5% in the rest of the study population; p = 0.67) or poor outcomes (39.5 vs. 36.9%; p = 0.77). The only independent determinants of U-END were hydrocephalus (OR 2.6 [95%CI, 1.1-6.4]; p = 0.03) and intraventricular hemorrhage (IVH; OR 3.5 [95%CI, 1.1-11.7]; p = 0.04). When compared to the initial GCS control group, U-END patients more often presented with IVH (89.5 vs. 64.1%; p = 0.009) and hydrocephalus (73 vs. 38.5%; p = 0.003). When compared to the lowest GCS control group, U-END patients had lower early S100B serum levels (0.35 ± 0.37 vs. 0.83 ± 1; p = 0.009) and a lower rate of poor outcome (39.5 vs. 64.9%; p = 0.03). Conclusion: Ultra-early neurological deterioration in ruptured BAVMs did not result in increased mortality or poor outcomes and was most often related to IVH and hydrocephalus.

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Pulmonary arteriovenous malformations are rare, abnormal, low-resistance vascular structures that connect a pulmonary artery to a vein. They are common in patients with hereditary hemorrhagic telangiectasia; however, acquired malformations can occur in patients with underlying diseases such as chest trauma, hepatic cirrhosis, and mitral stenosis. Pulmonary arteriovenous malformations bypass the normal pulmonary capillary bed and result in intrapulmonary right-to-left shunts, which may cause central nervous system complications such as brain abscesses or ischemic stroke. Brain abscesses related to pulmonary arteriovenous malformations are not uncommon; however, reports of their occurrence during chemotherapy are limited. Here, we report the case of a 68-year-old woman with bilateral pulmonary arteriovenous malformations and appendiceal adenocarcinoma who developed a bacterial brain abscess during chemotherapy. The infection was treated using abscess drainage and antibiotic therapy. After the brain abscess healed, catheter embolization was performed on the pulmonary arteriovenous malformations and chemotherapy was resumed. The present case suggests that if a patient with a malignancy has a pulmonary arteriovenous malformation, clinicians should pay special attention to complications such as brain abscesses during chemotherapy. For patients who do not urgently need chemotherapy, embolization of the pulmonary arteriovenous malformation before chemotherapy may be a better treatment option.

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A 63-year-old woman presented with a giant arteriovenous malformation (AVM) of the lower limbs associated with Parkes Weber syndrome (PWS). The AVM was supplied by 4 branches of the right profunda femoris artery and 4-stage embolization was performed. At 67 years of age, she developed a pseudoaneurysm due to the recanalization of a coiled profunda femoris artery branch arterial aneurysm. We performed re-embolization of the coiled profunda femoris artery and observed its shrinkage, but 2 months later, the pseudoaneurysm began to expand again, having a fatal course. This case indicates that battles against giant AVM-associated PWS follow a long and convoluted path. We present this case with reviewing 15 previously reported cases to improve our management of PWS.

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OBJECTIVE: To evaluate the efficacy of combining high-intensity focused ultrasound (HIFU) ablation with hysteroscopic removal of retained products of conception in the presence of a uterine arteriovenous fistula (UAVF). DESIGN: Prospective cohort study SETTING: Tertiary hospital. PARTICIPANTS: 17 patients with UAVF and retained products of conception. INTERVENTIONS: HIFU ablation combined with hysteroscopic removal of retained products of conception RESULTS: All patients presented with irregular vaginal bleeding following pregnancy termination and not responsive to medical treatment. Patients were confirmed to have a UAVF along with concurrent intrauterine residue using three-dimensional color Doppler ultrasonography, uterine angiography, or pelvic-enhanced magnetic resonance imaging; and demonstrated a poor response to medical treatment. Under real-time ultrasound guidance, HIFU was used to ablate the arteriovenous malformation region. Patients underwent hysteroscopic removal of retained products of conception; the removed tissue was subjected to pathological examination. All patients underwent monthly uterine color Doppler ultrasound examinations and menstrual status follow-up within 3 months postoperatively and showed normal menstrual recovery without signs of arteriovenous malformations on ultrasonography. Pathological examination of the tissues removed during hysteroscopic clearance revealed characteristics consistent with pregnancy, with abnormal blood vessels in some tissues. All patients experienced normal menstrual recovery postoperatively, without intrauterine adhesions. CONCLUSION: Combining HIFU ablation with postoperative hysteroscopic surgery effectively treats pregnancy related UAVF with minimal complications, preserves fertility; it offers an additional treatment option for patients wanting future fertility.

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This study by Sasahara et al. explores the role of ephrin A1 in brain arteriovenous malformations (AVM) using DNA microarray analysis, quantitative real-time RT-PCR, and immunohistochemistry. The research identifies significant upregulation of ephrin A1 in AVM, suggesting its potential involvement in the abnormal vascular architecture characteristic of this condition. The study's innovative methodology and thorough exploration of gene expression patterns contribute valuable insights into AVM pathogenesis, highlighting ephrin A1 as a potential therapeutic target. However, the study's limitations include clinical variability among patient samples and the use of draining veins as controls, which may affect the robustness of the findings. Future research should address these limitations by using more homogeneous samples and expanding the investigation to include other ephrin family members. This could provide a broader understanding of ephrin signaling in AVM and guide the development of targeted therapies.

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5q14.3 microdeletion syndrome is a rare condition involving multiple genes such as MEF2C and RASA1 and is potentially classified as a neurocutaneous syndrome. Deletion of the MEF2C gene accounts for the majority of clinical manifestations, including global developmental delay, intellectual disability, seizures, and behavioral disorders. RASA1 deletion is linked to capillary malformations with arteriovenous malformations (CM-AVM). Until now, only 17 cases have been described with deletions of both genes. We present the first case described in Spain with the microdeletion in the 5q14.3 cytoband simultaneously affecting both MEF2C and RASA1, exhibiting the typical manifestations of this entity, and review the published cases to date.

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Background: Arteriovenous malformations (AVMs) within the mediastinum are rare vascular anomalies. With the increasing number of coronary angiographies being performed, the number of incidentally found cases is rising. This presents challenges in terms of determining the appropriate treatment strategy. Case summary: We present the case of a 79-year-old man with aortic stenosis, experiencing functional dyspnoea and fatigue. Echocardiography showed a bicuspid aortic valve, and while left heart catheterization confirmed no significant coronary stenosis, it revealed a tortuous vessel originating from the circumflex artery (Cx), assumed to be heading toward the pulmonary circulation. The patient was scheduled for a surgical replacement of the aortic valve (SAVR). During the SAVR, the tortuous vessel was revealed to be a large, complex AVM located in the mediastinum. This increased both the duration of the surgery and the use of cardioplegia. Further, bleeding occurred per-operatively. Post-operatively, the patient developed tachy-brady syndrome and was treated with a pacemaker before discharge. Discussion: Due to the rarity of incidental AVMs in the middle/posterior mediastinum, no standard treatment protocol is available. This leaves clinicians and surgeons to manage the disease on a case-by-case basis, often with limited experience to guide their decisions. This patient case underscores the challenge of determining whether patients should be offered transcatheter aortic valve implantation (TAVI) or surgery. Furthermore, it highlights the intricate challenges that can arise when dealing with thoracic AVMs during cardiac procedures, emphasizing the importance of pre-operative awareness and tailored surgical approaches based on multidisciplinary discussions.

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BACKGROUND: To assess the long-term outcome of large brain arteriovenous malformations (AVMs) (volume > 10 ml) underwent combined embolization and stereotactic radiosurgery (E+SRS) versus SRS alone. METHODS: Patients were recruited from a nationwide multicenter prospective collaboration registry (MATCH study, August 2011-August 2021) and categorized into E+SRS and SRS alone cohorts. Propensity score-matched survival analysis was employed to control for potential confounding variables. The primary outcome was a composite event of non-fatal hemorrhagic stroke or death. Secondary outcomes were favorable patient outcomes, AVM obliteration, favorable neurological outcomes, seizure, worsened mRS score, radiation-induced changes (RIC), and embolization complications. Furthermore, the efficacy of distinct embolization strategies was evaluated. Hazard ratios (HRs) were computed utilizing Cox proportional hazard models. RESULTS: Among 1063 AVMs who underwent SRS with or without prior embolization, 176 patients met the enrollment criteria. Following propensity score matching, the final analysis encompassed 98 patients (49 pairs). Median (interquartile range) follow-up duration for primary outcomes spanned 5.4 (2.7-8.4) years. Overall, the E+SRS strategy demonstrated a trend toward reduced incidence of primary outcomes compared to the SRS alone strategy (1.44 vs 2.37 per 100 patient-years; HR, 0.58 [95 % CI, 0.17-1.93]). Regardless of embolization degree or strategy, stratified analyses further consistently revealed a similar trend, albeit without achieving statistical significance. Secondary outcomes generally exhibited equivalence, but the combined approach showed potential superiority in most measures. CONCLUSIONS: This study suggests a trend toward lower long-term non-fatal hemorrhagic stroke or death risks with the E+SRS strategy when compared to SRS alone in large AVMs (volume > 10 ml).

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A 73-year-old man presented with left hypochondral pain. Dynamic computed tomography (CT) revealed abnormal vessels surrounding the pancreas, leading to a suspected diagnosis of pancreatic arteriovenous malformation (PAVM). At the time of the initial examination, dynamic CT revealed mild acute pancreatitis, and PAVM was diagnosed based on the findings of dynamic CT. Although repeated abdominal pain was observed after the improvement of pancreatitis, distal pancreatectomy was performed. At >1 year after surgery, no recurrence of PAVM was observed. Surgical resection should be considered in patients with symptomatic PAVM.

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To effectively treat cerebral arteriovenous malformations (AVMs), peri-nidal flow regulation and metabolic status must be understood. In this study, we used 15O-oxygen positron emission tomography (PET) post-processing analysis to investigate vascular radioactivity in the nidal region of AVMs. Single-dynamic PET imaging was performed on seven unruptured AVM patients during the sequential inhalation of 15O2 and C15O2. A previously validated dual-tracer basis function method (DBFM) was employed to calculate parametric images. The results of our study were as follows. First, in remote and contralateral AVM regions, DBFM and a previous approach of dual-tracer autoradiography (DARG) showed strong positive correlations in cerebral blood flow (CBF), cerebral oxygen metabolism rate (CMRO2), and oxygen extraction fraction. Second, peri-nidal CBF and CMRO2 correlation was lower, and overestimation occurred with DARG compared to with DBFM. Third, on comparing DBFM to quantitative 123I-iodoamphetamine single-photon emission computed tomography (SPECT), CBF correlated significantly. In contrast, the correlation between DARG and quantitative 123I-iodoamphetamine-SPECT was weaker in the peri-nidal regions. Fourth, analysis of tissue time-activity curves demonstrated good reproducibility using the novel formulation in the control, peri-nidus, and core nidal regions, indicating the adequacy of this approach. Overall, the DBFM approach holds promise for assessing haemodynamic alterations in patients with AVMs.

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BACKGROUND: Stereotactic radiosurgery (SRS) is an established treatment for brain arteriovenous malformations (AVMs), but outcomes between pediatric and adult populations are not well compared. We conducted a systematic review and meta-analysis comparing SRS outcomes for pediatric versus adult AVMs. METHODS: PubMed was searched for studies reporting SRS outcomes for pediatric or adult AVMs up to January 2024. Primary outcome was obliteration rate, with secondary outcomes including post-SRS hemorrhage, symptomatic radiation-induced changes (RICs), and permanent RICs. Pooled estimates were calculated using random effects models. RESULTS: Analysis included 22 studies with 3469 patients (1316 pediatric, 2153 adult). Pooled obliteration rate was 63% (95% confidence interval: 56%-70%) overall, with no significant difference between pediatric (61%) and adult (67%) cohorts (P = 0.38). Post-SRS hemorrhage rates were similar (5% pediatric, 6% adult, P = 0.60). Symptomatic RICs occurred in 9% (95% confidence interval: 6%-13%) overall, with 10% in both cohorts (P = 0.91). Permanent RIC rates were 4% in pediatric and 3% in adult cohorts (P = 0.43). Cyst formation (0.6%) and radiation-induced tumors (0.2%) were rare. All-cause mortality was significantly lower in the pediatric cohort (2.6% vs. 9.8%, P = 0.003). Hemorrhagic AVM presentation was inversely correlated with symptomatic RICs across both groups. CONCLUSIONS: SRS is a reasonable treatment option for appropriately selected AVM patients in both pediatric and adult populations, offering comparable obliteration rates and adverse event profiles. The lower mortality in pediatric patients underscores the importance of early intervention in this population given their high cumulative lifetime rupture risks.

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Diagnostic accuracy of arteriovenous malformations (AVMs) is imperative for delineating management. The current standard is digital subtraction angiography (DSA). Arterial spin labeling (ASL) is an understudied noninvasive, non-contrast technique that allows angioarchitecture visualization and additionally quantifies cortical and AVM cerebral blood flow and hemodynamics. This meta-analysis aims to compare ASL and DSA imaging in detecting and characterizing cerebral AVMs. EMBASE, Medline, Scopus, and Cochrane databases were queried from inception to July 2022 for reports of AVMs evaluated by DSA and ASL imaging. Fourteen studies with 278 patients evaluated using DSA and ASL imaging prior to intervention were included; pCASL in 11 studies (n = 239, 85.37%) and PASL in three studies (n = 41, 14.64%). The overall AVM detection rate on ASL was 99% (CI 97-100%); subgroup analysis revealed no difference between pCASL vs. PASL (99%; CI 96-100% vs. 100%; CI 95-100% respectively, p = 0.42). The correlation value comparing ASL and DSA nidus size was 0.99. DSA and ASL intermodality agreement Cohen's k factor for Spetzler Martin Grading (SMG) was reported at a median of 0.98 (IQR 0.73-0.1), with a 1.0 agreement on SMG classification. A median of 25 arteries were detected by DSA (IQR 14.5-27), vs. 25 by ASL (IQR 14.5-27.5) at a median 0.92 k factor. ASL provides angioarchitectural visualization noninferior to DSA and additionally quantifies CBF. Our study suggests that ASL should be considered in the detection of AVMs, especially in patients with contrast contraindications or apprehension towards an invasive assessment.

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BACKGROUND: Surgical timing after rupture of brain arteriovenous malformations (AVMs) is controversial. There is scarce literature on AVM surgical outcomes from developing countries. This study aims to determine if there is a difference between early and delayed surgical resection for patients with ruptured brain AVMs. METHODS: This single-center retrospective review included patients who underwent surgical resection for ruptured brain AVMs in Colombia. Patients were stratified by the timing of surgical intervention relative to the rupture into early (≤72 hours of bleeding) and delayed (>72 hours) resection. Continuous variables were analyzed using an independent t-test, and dichotomous variables were analyzed using a χ2 test. A linear regression analysis was performed with the final mRankin score at 2 years as the dependent variable; P < 0.05 was considered significant. RESULTS: Thirty-one patients were identified. The early treatment group included 14 (45.2%) patients, and the delayed group included 17 (54.8%) patients. The mean (SD) length of time between AVM rupture and surgical resection was 1.6 ± 1.2 days and 12.4 ± 8.4 days, respectively (P < 0.001). There were no differences regarding demographics, perioperative variables, and postoperative outcomes between groups. In the linear regression analysis, the only variable that had a significant association with the final mRankin score was the initial Glasgow Coma Scale, which had a ß coefficient of -0.6341 (95% confidence interval: -0.41,-0.017, P = 0.035). CONCLUSIONS: In this case series of 31 patients from a developing country, there were no differences in clinical outcomes at the final follow-up between acute and delayed surgical interventions for ruptured AVMs. The most important factor associated with the final outcomes was the initial Glasgow Coma Scale.

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Dural arteriovenous fistula (DAVF) of the craniocervical junction is exceptionally rare. The anatomy of the craniocervical junction area is very complex and is composed of the medulla and spinal cord along with intricate neurovascular structures. A thorough assessment of the angioarchitecture of the fistula is obligatory for choosing the most appropriate treatment for the patient. In this report, we describe the nuance of microsurgical obliteration of craniocervical junction DAVF utilizing intraoperative angiography. A 38-year-old male in a normal state of health was referred to our hospital for an abnormality in his brain checkup. Workup diagnostics showed a DAVF on the craniocervical junction area with feeders from ascending pharyngeal, vertebral, and occipital arteries, with the draining vein mainly to the basal vein of Rosenthal. Microsurgical obliteration of the main draining vein was done with the help of intraoperative digital subtraction angiography with a good outcome. Craniocervical DAVF is a rare entity. Meticulous evaluation of arterial and venous fistula points is necessary to decide the best treatment option for this case. Microsurgical obliteration is a feasible and more straightforward procedure for treating craniocervical DAVF.

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PURPOSE: Spontaneous spinal hematoma (SSH), a rare neurological disorder, demands immediate diagnostic evaluation and intervention to prevent lasting deficits. This case series analyzes instances, particularly highlighting cases where vascular causes were identified despite inconclusive initial imaging. METHODS: In a retrospective study of 20 patients treated for SSH at a Level I spine center from 01/01/2017 to 11/15/2023, we examined demographics, clinical presentation, imaging, and treatment details. Excluding traumatic cases, we present 4 instances of SSH associated with diverse vascular pathologies. RESULTS: Patient ages ranged from 39 to 85 years, with a median age of 66 years. 45% were male, and 55% were female. Among 20 cases, 14 were epidural hematomas, 4 subdural, 1 combined epidural and subdural, and 1 subarachnoid hemorrhage. 85% presented with neurological deficits, while 3 solely had pain-related symptoms. 55% were under anticoagulant medication, and vascular anomalies were found in 25% of cases. The cause of SSH remained unclear in 20% of cases. MRI was performed for all patients, and DSA was conducted in 25% of cases. The 4 highlighted cases involved individuals with distinct vascular pathologies managed surgically. CONCLUSION: Urgent attention is crucial for SSH due to possible lasting neurological consequences. The study emphasizes comprehensive diagnostics and surgical exploration, especially in cases with unclear etiology, to identify and address vascular causes, preventing hematoma progression or recurrence. Despite their rarity, vascular malformations contributing to spinal hematomas warrant particular attention.

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