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Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder of vascular malformations characterized by mucocutaneous telangiectases and arteriovenous malformations (AVMs) in internal organs. HHT is caused by inheritance of a loss of function mutation in one of three genes. Although individuals with HHT are haploinsufficient for one of these genes throughout their entire body, rather than exhibiting a systemic vascular phenotype, vascular malformations occur as focal lesions in discrete anatomic locations. The inconsistency between genotype and phenotype has provoked debate over whether haploinsufficiency or a different mechanism gives rise to the vascular malformations. We previously showed that HHT-associated skin telangiectases develop by a two-hit mutation mechanism in an HHT gene. However, somatic mutations were identified in only half of the telangiectases, raising the question whether a second-hit somatic mutation is a necessary (required) event in HHT pathogenesis. Here, we show that another mechanism for the second hit is loss of heterozygosity across the chromosome bearing the germline mutation. Secondly, we investigate the two-hit mutation mechanism for internal organ AVMs, the source of much of the morbidity of HHT. Here, we identified somatic molecular genetic events in eight liver telangiectases, including point mutations and a loss of heterozygosity event. We also identified somatic mutations in one pulmonary AVM and two brain AVMs, confirming that mucocutaneous and internal organ vascular malformations undergo the same molecular mechanisms. Together, these data argue that bi-allelic loss of function in an HHT gene is a required event in the pathogenesis of HHT-associated vascular malformations.

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Cavernous malformations are rare vascular anomalies of the central nervous system, occurring in the spinal cord in just 5% of cases. Despite being documented in the literature, intramedullary cavernous malformations are exceedingly rare and often challenging to distinguish from other intramedullary lesions. We report a case of a 42-year-old patient with back pain, right-sided dysesthesias, and impaired proprioception in the distal limbs for approximately 3 months. Magnetic resonance imaging, crucial for differential diagnosis, identified intramedullary cavernous malformations at T11-12. Several conditions can hide the real cause of back pain; however, magnetic resonance imaging can reveal common conditions (such as discal hernia) and rare findings like cavernous malformations. Magnetic resonance imaging remains the study of choice for diagnosing and characterizing intramedullary cavernous malformations.

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Pneumocephalus, is a general term describing the presence of air within the intracranial structures. It most commonly occurs due to dural injury, often the sequela of head trauma or surgery. More infrequently, nontraumatic pneumocephalus can be related to infection, Valsalva, fistulization between air-containing organs and intracranial structures, or vascular air embolism. While postsurgical pneumocephalus is often benign, serious consequences of pneumocephalus exist, including tension pneumocephalus and cerebral infarction. We present a case of air embolism and cerebral infarction in a patient with Ehlers-Danlos syndrome, found to have large cavitary lesion in the left upper lobe of the lung, with associated pulmonary vascular malformation seen on bronchoscopy. To our knowledge this is the first reported case of air embolism associated with a pulmonary cavitary lesion and vascular malformation, in a patient with Ehlers-Danlos syndrome.

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Objective: Proteus syndrome, a rare disorder with an incidence of one in a million, is characterized by connective tissue nevi, asymmetric limb overgrowth, and abnormal subcutaneous adipose tissue distribution. Limited awareness of this condition often hinders accurate clinical diagnosis. We report a case of Proteus syndrome with concurrent progressive paralysis in the unilateral lower limb, aiming to enhance understanding of the disease and its associated complications. Methods: The patient, an 11-year-old male, has been conclusively diagnosed with Proteus Syndrome. This diagnosis was established by analyzing clinical manifestations, imaging studies, and laboratory tests. In addition, a literature review was conducted to systematically elucidate the etiology, diagnosis, treatment, and prognosis of this condition. Results: According to the clinical manifestations, we confirmed a case of Proteus syndrome. This example exhibits the general characteristics of patients with severe hemihypertrophy of the bilateral lower limbs, anomalies in hypodermic and adipose distribution, and unilateral lower limb progressive paralysis. Pathological biopsy confirmed the right chest wall mass as a lipoma. Notably, the patient experiences lower limb movement disorders caused by intraspinal disease. At the same time, the gene sequencing results of this Proteus syndrome patient showed mutations in the IDUS gene and SPECC1L gene, which have not been reported before. Conclusion: We diagnosed Proteus Syndrome with lower limb sensorimotor abnormalities, which may be caused by mutations in the IDUS gene or SPECC1L gene. This is the first report of these kinds of gene mutations in association with Proteus Syndrome.

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Spinal Arteriovenous Metameric Syndrome is a rare and complex nonhereditary genetic vascular disorder, affecting multiple layers of tissues at the same metamere, including the spinal cord. We present a case of a 20-year-old man who presented to the emergency department with sudden headache and transient loss of consciousness. Cranial computed tomography scan revealed subarachnoid hemorrhage predominantly in the cerebellar cisterns, fourth ventricle, extending to the basal cisterns. Cerebral angiography showed no abnormalities. Cervical angiographic acquisitions demonstrated a spinal metameric arteriovenous malformation (AVM) at the C3 and C4 levels. Cervical magnetic resonance imaging also confirmed the metameric AVM, revealing both intradural intramedullary and extra-dural vascular lesions in the vertebrae and adjacent soft tissues. The patient was referred for endovascular treatment. Although quite rare, the association between cervical spinal arteriovenous shunt diseases and intracranial hemorrhage has been reported. The bleeding in this case may be attributed to venous reflux into intracranial veins.

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BACKGROUND: Anorectal hemangioma is a rare and frequently misdiagnosed cause of lower gastrointestinal (GI) bleeding. Here, we present a minimally invasive therapy with selective embolization. CASE SUMMARY: A 21-year-old male patient experienced painless rectal bleeding since childhood and was treated for ulcerative colitis. Diagnostic studies later revealed specific characteristics for vascular lesions-anorectal hemangiomas. The severity of rectal bleeding caused symptomatic anemia and possible surgical treatment was associated with a high risk of fecal incontinence. Here, we present selective embolization, a minimally invasive therapeutic approach that is proven as an alternative therapeutic method of choice. The patient significantly improved temporarily and had a small ischemic ulcer, which healed with a control colonoscopy and developed no stenosis. CONCLUSION: Awareness of the clinical and radiological features of GI hemangiomas may help improve diagnostics and avoid inappropriate therapeutic procedures.

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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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OBJECTIVE: In 2022, arterioectatic spinal angiopathy (AESA) of childhood was reported as a fatal, progressive, multi-segment myelopathy associated with a unique form of non-inflammatory spinal angiopathy involving diffuse dilatation of the anterior spinal artery and cord congestion in children. In this study, we present four more cases of AESA, using early and long-term conventional imaging and flat detector computed tomography angiography (FDCTA) imaging to assess the probability of disease regression and prevent unnecessary interventions. METHODS: We retrospectively reviewed the clinical and radiological findings of four patients with AESA seen in two neuroradiology departments between 2014 and 2023. RESULTS: The study included three boys and one girl. Two of the boys were siblings. Although the clinical and radiological presentation in the early stages of the clinical course overlapped the definition of AESA, the clinical course was more benign in three of the cases. The clinical courses of the two siblings with monosegmental cord involvement and largely reversible radiological findings suggest that some of the features in the initial definition of the disease cannot be standardized for all patients. The siblings had a mutation of the NDUFS gene, which is involved in mitochondrial function and clinical-radiological reversibility in these patients. CONCLUSION: Many mitochondrial diseases, such as this NDUFS mutation, present with myelopathy, and mitochondrial diseases can sometimes show spontaneous recovery. It is crucial to identify other genetic mutations or environmental factors that trigger the accompanying vascular ectatic findings in AESA in larger multicenter studies to prevent its potential lethal course and possible unnecessary surgical-endovascular interventions.

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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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Rationale: Haemangiomas are benign vascular malformations. They are common neoplasms of infancy but seldom manifest at birth. Although common in the head & neck region, they are rare in the submandibular region. Despite being benign, surgical treatment is necessary if it causes significant functional or aesthetic compromise. Patient Concerns: The patient's primary complaint was swelling in the submandibular region. Diagnosis: Initial examination and imaging studies were suggestive of sialolithiasis due to the presence of multiple calcifications. Ultrasonographic and magnetic resonance imaging were suggestive of haemangioma with multiple phleboliths. Treatment: Excisional biopsy was done without compromising the submandibular gland. A histopathological examination was done post-operatively to confirm the diagnosis. Outcomes: Post-operative recovery was uneventful and 6-month follow-up showed no recurrence. Take-away Lesson: This case highlights the importance of considering haemangioma in the differential diagnosis of submandibular region masses and emphasises the preservation of the submandibular gland when the extent of the lesion permits.

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BACKGROUND: Next-generation sequencing has greatly increased our understanding of vascular birthmarks. Many port-wine birthmarks are due to somatic mutations in GNAQ/GNA11 exon 183, but other genomic causes have been identified. Most congenital hemangiomas are due to somatic mutations in GNAQ/GNA11 at exon 209. Although genomically distinct, clinical overlap of congenital hemangiomas and port-wine birthmarks has occasionally been described. OBJECTIVE: We report a case series of a unique segmentally distributed vascular anomaly with overlapping characteristics of port-wine birthmarks and congenital hemangiomas with other distinctive features including ulceration, atrophy, and scarring. METHODS: This was a multicenter study with retrospective identification of patients via a detailed review of medical records. We also reviewed previously published cases. RESULTS: The clinical, histological, radiological, and genomic characteristics of 19 new and 13 previously reported cases characterized by segmental distribution, sharply demarcated borders, with variable thickening are presented. All cases had central atrophy with or without episodic ulceration. Those with genomic studies (13 out of 32) had somatic activating missense mutations in GNA11 or GNAQ codon 209. CONCLUSIONS: We describe the features and propose a descriptive name segmental congenital vascular anomaly with atrophy, ulceration, and scarring (SeCVAUS) for this condition.

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BACKGROUND: Cerebral arteriovenous malformation (AVM) is a cerebrovascular disorder posing a risk for intracranial hemorrhage. However, there are few reliable quantitative indices to predict hemorrhage risk accurately. This study aimed to identify potential biomarkers for hemorrhage risk by quantitatively analyzing the hemodynamic and morphological features within the AVM nidus. METHODS: This study included three datasets comprising consecutive patients with untreated AVMs between January 2008 to December 2023. Training and test datasets were used to train and evaluate the model. An independent validation dataset of patients receiving conservative treatment was used to evaluate the model performance in predicting subsequent hemorrhage during follow-up. Hemodynamic and morphological features were quantitatively extracted based on digital subtraction angiography (DSA). Individual models using various machine learning algorithms and an ensemble model were constructed on the training dataset. Model performance was assessed using the confusion matrix-related metrics. RESULTS: This study included 844 patients with AVMs, distributed across the training (n=597), test (n=149), and validation (n=98) datasets. Five hemodynamic and 14 morphological features were quantitatively extracted for each patient. The ensemble model, constructed based on five individual machine-learning models, achieved an area under the curve of 0.880 (0.824-0.937) on the test dataset and 0.864 (0.769-0.959) on the independent validation dataset. CONCLUSION: Quantitative hemodynamic and morphological features extracted from DSA data serve as potential indicators for assessing the rupture risk of AVM. The ensemble model effectively integrated multidimensional features, demonstrating favorable performance in predicting subsequent rupture of AVM.

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The Foix-Alajouanine syndrome was originally reported by these authors in 1926, as rapidly progressive vasculitis on the background of a viral infection. The pathology was represented by the huge, more than 10 times, dilation either of the lumen, or the walls of the spinal vessels, either of the arteries, or the veins. There were no signs of thrombosis, no malformations. Massive necrosis was observed in the spinal cord. Though plenty of observations of the syndrome were reported over the past 100 years, most of them deal with arteriovenous malformations and/or thrombosis, which had not been revealed originally. We present the case of spinal viral vasculitis detected by means of spinal MR-angiography. The undoubted viral etiology of vasculitis allows us to attribute this observation to Foix-Alajouanine syndrome.

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Fibro-Adipose Vascular Anomaly (FAVA) is a recently identified type of vascular malformation predominantly affecting adolescent females. Comprising abnormal adipose and vascular components, FAVA is frequently misdiagnosed as other vascular anomalies. It primarily manifests with pain, functional impairment, and musculoskeletal symptoms, particularly in the lower extremities. Accurate diagnosis requires a combination of clinical, radiologic, and histopathologic evaluation, with MRI and ultrasound being the primary imaging tools. Management of FAVA is multidisciplinary and tailored to individual patients. Interventional radiology procedures, such as percutaneous cryoablation, sclerotherapy, and embolization, are effective in long term control of symptoms. Cryoablation is particularly successful in alleviating pain and improving function. Surgical resection is reserved for specific cases with extensive lesions involving joints or when there is severe muscle or joint dysfunction. Additionally, sirolimus, an mTOR inhibitor, has shown promise in symptom relief, although further research is needed to confirm its long-term efficacy. Early diagnosis and treatment are essential for improving the quality of life in FAVA patients. Advances in imaging and treatment strategies have enhanced the ability to manage this complex and rare condition effectively.

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Background: Primary intracranial sarcomas (PIS) are rare tumors with mesenchymal origins. These tumors have a heterogeneous clinical presentation and are associated with a poor prognosis. Case Description: This report highlights the complexities associated with PIS by focusing on a 26-year-old male with recurrent tumor growth facing unique challenges regarding diagnosis and treatment options . A high-grade spindle-celled neoplasm with sarcomatous features characterized the patient's tumor. There were additional morphologic changes, including multinucleated giant cells and rare foci with eosinophilic spheroids. Genomic analysis revealed a DICER1-associated PIS. Treatment involved endovascular embolization, multiple surgical interventions, intrathecal etoposide injections, and oral pazopanib with adjuvant radiation therapy. Conclusion: This case additionally highlights an unusual association between PIS and anomalous hypervascularity, refractory hemorrhage, and subdural effusions, a presentation that is increasingly being reported in this type of tumor.

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PURPOSE: The purpose of this study was to evaluate the safety and efficacy of intralesional injection of chitosan hydrogel (CH) combined with sodium tetradecyl sulfate (STS) to sclerose and embolize venous malformations (VMs) by comparison with 3% STS foam and placebo in a mouse model. MATERIALS AND METHODS: Subcutaneous VMs were created by injecting HUVEC_TIE2-L914F cells, mixed with matrigel, into the back of athymic mice (Day [D] 0). After VM-like lesions were established at D10, 70 lesions were randomly assigned to one of six treatment groups (untreated, saline, 3% STS-foam, CH, 1% STS-CH, 3% STS-CH). For 3% STS-foam, the standard Tessari technique was performed. VMs were regularly evaluated every 2-3 days to measure lesion size until the time of collection at D30 (primary endpoint). At D30, VM lesions including the matrigel plugs were culled and evaluated by histological analysis to assess vessel size, chitosan distribution and endothelial expression. One-way analysis of variance (ANOVA) test was performed to compare quantitative variables with normal distribution, otherwise Kruskal-Wallis test followed by pairwise comparisons by a Wilcoxon rank sum test was performed. RESULTS: All VMs were successfully punctured and injected. Six VMs injected with 3% STS-CH showed early skin ulceration with an extrusion of the matrigel plug and were excluded from final analysis. In the remaining 64 VMs, skin ulceration occurred on 26 plugs, resulting in the loss of three 3% STS-foam and one 1% STS-CH plugs. Both chitosan formulations effectively controlled growth of VMs by the end of follow-up compared to untreated or 3% STS-foam groups (P < 0.05). Vessel sizes were smaller with both CH formulations compared to untreated and saline groups (P < 0.05). Additionally, there were smaller vascular channels within the 1% STS-CH group compared to the 3% STS-foam group (P < 0.05). CONCLUSION: Chitosan's ability to control the growth of VMs suggests a promising therapeutic effect that outperforms the gold standard (STS-foam) on several variables.

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Intramuscular hemangiomas (IMH) are extremely rare, accounting for 0.8% of all hemangiomas. IMH must be included in the differential diagnosis of soft tissue masses, and unexplained muscular pain. We herein describe the case of a patient who presented with an atypical localization of IMH in the infraspinatus muscle.

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BACKGROUND: Port-Wine Birthmarks (PWB) are congenital capillary malformations requiring multiple treatments. Optical coherence tomography (OCT), a noninvasive imaging technique, characterizes vessels in cutaneous vascular lesions, including PWBs. OBJECTIVE: To assess variability in blood vessel characteristics within and between individual PWBs. METHODS: OCT was used to measure blood vessel density (%) and modal vessel diameter (micrometers) at increments of 0.05 mm from the skin surface to a depth of 0.50 mm at several adjacent spots of single PWBs in this cross-sectional study. Average ratios of vessel density and diameter in affected to control skin were obtained for each PWB by averaging data for all spots within a lesion. Statistical analysis was performed with a linear mixed effects model using SPSS software (IBM Corporation). RESULTS: There was great variability in vessel density and diameter within and between PWBs. Depths where average ratios of vessel density were consistently greater in affected to control skin were shallow, between 0.15 mm and 0.2 mm deep from the skin surface. LIMITATIONS: Small sample size and device's inability to measure diameters smaller than 20 micrometers. CONCLUSION: There is variability in vessel density and diameter within and between PWBs. Individualized treatment planning guided by OCT mapping should be studied further.