Vascular Malformations Research Articles

Case Report of Rectosigmoid Vascular Malformation

Abstract Introduction/Objective Gastrointestinal (GI) vascular malformations and hemangiomas, although infrequently encountered, can present with similar clinical symptoms as other more common causes of chronic hematochezia, such as hemorrhoids or inflammatory bowel disease (IBD, ex. Crohn’s disease, ulcerative colitis). Whereas hemangiomas are benign vascular tumors that grow quickly and often involute, vascular malformations consist of abnormal vasculature that grow in size as the individual ages without regression. Gastrointestinal vascular malformations can result in pain secondary to applied pressure on nearby tissues/organs and induce a chronic anemic state secondary to ongoing hematochezia. As surgery or sclerotherapy can often treat the condition, proper diagnosis is critical as it can impact treatment and quality of life. Among GI vascular malformations, rectosigmoid vascular malformations are uncommon, making up 5% of lower limb vascular malformations examined in recent published literature. In this case report, we highlight a case of rectosigmoid vascular malformation. Methods/Case Report A 41-year-old female, initially treated for inflammatory bowel disease (IBD), presents with multiple bloody bowel movements a day accompanied by nausea secondary to chronic proctosigmoiditis refractory to medications traditionally used in IBD: mesalamine derivatives, systemic corticosteroid, and biologics. While colonoscopy demonstrated some features suggestive of ulcerative colitis, CT and MR enterography showed severe rectal wall thickening with phleboliths, which was unchanged over many years, suggestive of a vascular malformation such as a hemangioma. Following rectosigmoid colon resection, a diagnosis of a 9 cm rectosigmoid vascular malformation was made, showing extensive bowel wall involvement by the malformed vasculature. On follow-up, the patient is doing well, and her symptoms have completely resolved. Results (if a Case Study enter NA) NA Conclusion Vascular malformations can be classified into various subtypes (capillary, venous, arterial, lymphatics, etc), found throughout the body, and vary in size. Our case consists of a mixed nature (artery, vein, and lymphatics), notable size (9.0 cm in greatest dimension) with extensive bowel wall involvement, and an unusual location (rectosigmoid region). This case represents an uncommon presentation of this entity, which appears to be clinically challenging. Though uncommon, this diagnosis should be on the differential of unusual etiologies of overt lower GI bleeding.

The Complexities of Orbital Arteriovenous Malformations: A Systematic Review of Clinical Features and Treatment Approaches.

The orbital vascular malformations are very rare congenital lesions characterized by a connection directly between arteries and veins, thus bypassing the capillary network. These lesions may be associated with clinical features ranging from mild proptosis to vision-threatening conditions like visual loss and elevated intraocular pressure.Despite advances in imaging and treatment strategies, the management of orbital arteriovenous malformations (AVMs) still remains daunting because of the high risk of complications, including hemorrhage and incomplete resection. Thissystematic review was done according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A detailed search of the major databases such as PubMed and Scopus was performed using the keywords "Ocular OR orbit AND arteriovenous malformations OR AVM" without specifying the date. All case reports, case series, and observational studies reporting the diagnosis, treatment, and outcome of patients with orbital AVM were included. Data extraction was focused on clinical presentations, diagnostic modalities, treatment interventions, and outcomes; narrative synthesis was done due to heterogeneity in the studies. This review contains 27 case reports, where the number of patients ranged between three years and 75 years with a mean age of 34 years. The majority of the patients were males constituting 66%. The common clinical features include proptosis in 16 cases, visual loss in 12 cases, and chemosis in seven cases. Most of the patients underwent surgical resection and embolization of the malformations. In most of the cases, surgical resection was uneventful; however, a few cases with high risks showed hemorrhage and loss of vision as complications. Conservative management was also effective in certain stable or asymptomatic cases. Orbital vascular malformations include complex diagnostic and therapeutic challenges due to the complex anatomy of the orbit and the high risk of serious complications. This systematic review aimed at presenting the clinical features, diagnostic challenges, and treatment outcomes of orbital arteriovenous malformations for a better management strategy.Further research is required in the refinement of treatment protocols, especially regarding high-flow lesions, and a critical look at improving long-term efficacy.

Non-Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular Malformations.

PIK3CA variants are known to cause vascular malformations. We were interested in studying the phenotypic spectrum, the location within the PIK3CA gene, and the variant allele frequency (VAF) of somatic PI3KCA variants in vascular malformations. Clinical data of consecutive patients with extracranial/extraspinal vascular malformations were collected in the context of the VASCOM cohort (2008-2022, n = 558). Starting October 2020, biopsy samples were tested with the TSO500 gene panel (Illumina). All consenting patients with PIK3CA variants were included in this study. Eighty-nine patients had available genetic results by June 2022. PIK3CA variants (n = 25) were found in 16 simple/combined (nonsyndromic) vascular malformations and in nine vascular malformations associated with other anomalies (syndromic). Four hotspot variants in exons 9 and 20 (c.1624G>A, c.1633G>A, c.3140A>G, c.3140A>T) were identified in 16/25 patients (VAF 0.9%-9.7%). Six non-hotspot variants (c.328_330del, c.323_337del, c.353G>A, c.1258T>C, c.3132T>A, c.3195_3203delinsT) were detected in nine patients (VAF 3.6%-31.7%). Non-hotspot variants were more frequent in syndromic than nonsyndromic vascular malformations (p = 0.0034) and exhibited a higher VAF than hotspot variants (p = 0.0253). Our study contributes to the growing body of knowledge of the genetic background in vascular malformations. Further studies will enrich the ever-growing list of pathogenic PIK3CA variants associated with vascular malformations.

Treatment of iliac arteriovenous malformation associated with trisomy 21: a case report

Both arteriovenous malformation (AVM) and trisomy 21 are rare diseases. Studies have shown that individuals with trisomy 21 may have potential vascular malformations, with the main site of onset being the portal system. This case involved an adult patient with trisomy 21 who presented with pelvic iliac arteriovenous malformations. The patient underwent interventional treatment, and the prognosis was favorable. It is important to enhance the screening for vascular malformations in patients with trisomy 21 syndrome. At the same time, interventional treatment for AVMs is effective and increasingly important for managing AVMs.

Bridging the gap between neuroimaging and neurosurgery: a case of epidural arteriovenous fistula with an intradural presentation. Illustrative case.

Epidural arteriovenous fistulas (eAVFs) are rare vascular malformations often mistaken for their intradural counterparts due to similar angiographic features. Differentiation between epidural and intradural vascular lesions is crucial as it impacts surgical planning and prognosis. Despite advancements in diagnostic imaging, these entities can be misinterpreted and challenge management. The authors report the case of a 68-year-old male suspected to have a type I dural arteriovenous fistula based on magnetic resonance angiography and angiographic evaluation. He presented with progressive myelopathy and multiple neurological symptoms exacerbated by recent trauma. A superselective angiogram of the right T10 segmental artery suggested an intradural arteriovenous fistula; however, intraoperatively, the lesion was epidural. The arterialized venous structures were obliterated, and the patient reported significant postoperative symptomatic improvement. This case highlights the critical importance of comprehensive imaging and cautious interpretation in the diagnosis of spinal vascular malformations. It also underscores the need for a multidisciplinary approach to ensure accurate diagnosis and effective treatment. Surgeons must be prepared for intraoperative findings that diverge from preoperative imaging to adapt surgical strategies accordingly. Furthermore, this case contributes to the evolving understanding of eAVFs, suggesting that revised imaging protocols may be required to better distinguish epidural from intradural vascular abnormalities. https://thejns.org/doi/10.3171/CASE24331.

Force-mediated recruitment and reprogramming of healthy endothelial cells drive vascular lesion growth

Force-driven cellular interactions are crucial for cancer cell invasion but remain underexplored in vascular abnormalities. Cerebral cavernous malformations (CCM), a vascular abnormality characterized by leaky vessels, involves CCM mutant cells recruiting wild-type endothelial cells to form and expand mosaic lesions. The mechanisms behind this recruitment remain poorly understood. Here, we use an in-vitro model of angiogenic invasion with traction force microscopy to reveal that hyper-angiogenic Ccm2-silenced endothelial cells enhance angiogenic invasion of neighboring wild-type cells through force and extracellular matrix-guided mechanisms. We demonstrate that mechanically hyperactive CCM2-silenced tips guide wild-type cells by transmitting pulling forces and by creating paths in the matrix, in a ROCKs-dependent manner. This is associated with reinforcement of β1 integrin and actin cytoskeleton in wild-type cells. Further, wild-type cells are reprogrammed into stalk cells and activate matrisome and DNA replication programs, thereby initiating proliferation. Our findings reveal how CCM2 mutants hijack wild-type cell functions to fuel lesion growth, providing insight into the etiology of vascular malformations. By integrating biophysical and molecular techniques, we offer tools for studying cell mechanics in tissue heterogeneity and disease progression.

Regimens and Response Assessment in Minimally Invasive Image-Guided Therapies for Vascular Malformations: Insights from a Large Cohort Study at a Tertiary-Care Hospital

This retrospective study was aimed at characterizing vascular malformations (VMFs) presenting for minimally invasive image-guided therapies (MIT) at a tertiary-care center and evaluating treatment regimens and image-based outcomes using MRI. We analyzed demographic, disease-related, and radiologic features of VMFs presenting to interventional radiology between May 2008 and August 2020 using compendium vascular anomaly (Compva) criteria. MIT and specific agents were evaluated, and treatment effects were assessed through volumetry and mean signal intensity (MSI) on multiparametric longitudinal MRI. The statistics included the paired t-test, ANOVA, and Fisher’s exact test. The cohort included 217 patients (mean age 30 ± 18.4 years; 134 female). Venous malformations were most common (47%). VMFs were frequently located in the head-neck region (23.5%), legs (23.04%), and arms (13.8%). Among 112 treatments, sclerotherapy was performed most frequently (63.9%), followed by embolization (19.3%). MRI showed a significant reduction in T2 MSI for venous (1107.95 vs. 465.26; p = 0.028) and decreased contrast media uptake for lymphatic malformations (557.33 vs. 285.33; p = 0.029) after sclerotherapy, while the lesion volumes did not change significantly (p = 0.8). These findings propose MRI-derived MSI as a potential non-invasive biomarker for assessing the response of VMF to MIT. By leveraging MRI, this study addresses challenges in managing rare diseases like VMFs, while advocating for standardized approaches and prospective studies to better link imaging findings with clinical outcomes.

7328 A case of Adrenal Calcifications in a Patient with Familial Cerebral Cavernous Malformations

Abstract Disclosure: R.I. Dorin: None. L.E. Aguirre: None. M. Bomgardner: None. Background: Familial syndromes of cerebral cavernous malformation (fCCM) having autosomal dominant inheritance and variable penetrance and expression have been linked to loss of function mutations at three genetic loci. The association of small focal adrenal calcifications with fCCM was only recently recognized in a New Mexican cohort of subjects predominately carrying the founder common Hispanic mutation in the CCM1 locus (stop codon Q455X in the Krev1 interaction trapped gene 1 [KRIT1]). We report a case of bilateral, focal adrenal calcifications in a patient affected by fCCM. Clinical Case: A 72-year-old Hispanic male with past medical history of intracranial CCM was referred for osteoporosis and hyperthyroidism due to multinodular goiter. Small focal calcifications of the adrenal glands were incidentally noted on prior imaging studies. There was no history of anticoagulant use, adrenal hemorrhage, or systemic/adrenal infection. The patient was without clinical manifestations of adrenal insufficiency, morning cortisol and plasma ACTH concentrations were normal, and exam was negative for hyperpigmentation or cutaneous vascular malformations. Brain MRI revealed the presence of over 100 parenchymal CCM lesions. A family history of CCM was reported in multiple family members, including 7/10 siblings. Conclusion: In addition to cutaneous malformations, small focal adrenal calcifications are now recognized as one of the extra-neurological manifestations of fCCM, particularly in patients harboring the common Hispanic CCM1/KRIT1 mutation. Whether adrenal calcifications are observed in fCCM patients having other mutations of KRIT1 or other genetic loci of fCCM (CCM2 or PDCD10) remains to be determined. The focal adrenal calcifications are believed to be result of dyssynchronous, subclinical hemorrhagic events related to vascular malformations in the adrenal gland. These findings implicate a role for KRIT1 in endothelial development in the adrenal gland in addition to established role in CNS, spinal cord, and skin. Our patient appeared had normal adrenocortical function, as expected for the focal nature of the adrenal lesions. Though adrenal function has not been evaluated in fCCM patients, there are no reports of primary adrenal insufficiency in fCCM in the literature. Adrenal calcifications may be considered to represent an imaging biomarker for fCCM, and fCCM should be included in the differential diagnosis of adrenal calcifications. The incidental recognition of characteristic small, focal adrenal calcifications in either bilateral or unilateral adrenal glands should prompt evaluation for fCCM.

8209 Silent Somatotroph Adenoma Unmasked as Pituitary Apoplexy, Disguised as Subarachnoid Hemorrhage

Abstract Disclosure: P. Vemparala: None. S. Challagulla: None. Introduction - Pituitary apoplexy is a rare and potentially life-threatening complication associated with pituitary adenomas, particularly in cases of nonfunctioning macroadenomas. Silent somatotroph adenomas, characterized by the presence of growth hormone (GH) immunoreactivity without manifesting signs and symptoms of acromegaly, are uncommon. This case report presents a distinctive instance where pituitary apoplexy served as the initial manifestation of a GH-immunoreactive tumor. CASE PRESENTATION- A 45-year-old male with a medical history of hypertension, sleep apnea, and hypogonadism sought emergency medical attention following a syncopal episode. Post-syncope, he reported severe headache and neck pain, with no other associated symptoms. Imaging revealed a subarachnoid hemorrhage and a sellar/suprasellar mass measuring approximately 2.8 x 3.6 x 4.2 cm. CT angiography ruled out an aneurysm or vascular malformation. The subarachnoid hemorrhage was attributed to hemorrhage within the sellar mass. Treatment with Nimodipine and levetiracetam was initiated. Laboratory investigations indicated normal insulin-like growth factor 1 (IGF-1) levels. Brain MRI revealed a 4.2 x 2.3 x 2.6 cm heterogeneous enhancing cystic sellar/suprasellar lesion causing mass effect on the hypothalamus and third ventricle. The patient underwent endoscopic transsphenoidal hypophysectomy, revealing a tumor that was diffusely positive for GH and synaptophysin immunostaining and negative for prolactin and ACTH. Ki67 was less than 5%, with no apparent mitotic activity, atypia, or tumor necrosis. The postoperative course was uneventful, and the patient was discharged on oral steroids. Conclusion- Silent somatotroph adenomas constitute a small percentage (2-4.2%) of pituitary adenomas. In contrast to silent gonadotroph adenomas, these tumors are more prevalent in women, tend to present earlier and exhibit higher recurrence rates. This case emphasizes the potential of silent somatotroph adenomas to manifest initially as pituitary apoplexy. It underscores the importance of vigilant post-surgical follow-up due to the possibility of recurrence. Additionally, recognizing pituitary apoplexy as subarachnoid hemorrhage is crucial for timely intervention and appropriate management. Presentation: 6/2/2024

Machine learning based classification of spontaneous intracranial hemorrhages using radiomics features.

To assess the efficacy of radiomics features extracted from non-contrast computed tomography (NCCT) scans in differentiating multiple etiologies of spontaneous intracerebral hemorrhage (ICH). CT images and clinical data from 141 ICH patients from 2010 to 2022 were collected. The cohort comprised primary (n = 57), tumorous (n = 46), and vascular malformation-related ICH (n = 38). Radiomics features were extracted from the initial brain NCCT scans and identified potential features using mutual information. A hierarchical classification with AdaBoost classifiers was employed to classify the multiple etiologies of ICH. Age of the patient and ICH's location were examined alongside radiomics features. The accuracy, area under the curve (AUC), sensitivity, and specificity were used to evaluate classification performance. The proposed method achieved an accuracy of 0.79. For identifying primary ICH, the model achieved a sensitivity of 0.86 and specificity of 0.87. Meanwhile, the sensitivity and specificity for identifying tumoral causes were 0.78 and 0.93, respectively. For vascular malformation, the model reached a sensitivity and specificity of 0.72 and 0.89, respectively. The AUCs for primary, tumorous, and vascular malformation were 0.86, 0.85, and 0.82, respectively. The findings further highlight the importance of texture-based variables in ICH classification. The age and location of the ICH can enhance the classification performance. The use of a machine learning model with radiomics features has the potential in classifying the three types of non-traumatic ICH. It may help the radiologist decide on an appropriate further examination plan to arrive at a correct diagnosis.

6912 Nail Fold Capillary Findings In Patients With Somatic EPAS1 Pathogenic Variants

Abstract Disclosure: H. Alkaissi: None. B. Turturice: None. J.S. Rosenblum: None. A.S. Alzahrani: None. S. Talvacchio: None. A. Derkyi: None. M. Nazari: None. H. Wang: None. I. Pinal Fernandez: None. Z. Zhuang: None. K. Pacak: None. We recently discovered a new syndrome characterized by a triad of pheochromocytoma/paraganglioma, polycythemia, and somatostatinoma (so called Pacak-Zhuang syndrome) caused by somatic gain-of-function pathogenic variants in the EPAS1 gene, encoding hypoxia-inducible factor 2α (HIF-2α). Recently, we have described additional features of this syndrome, including systemic developmental vascular malformations in patients and the mouse model [1]. Here we evaluated vascular changes in the nailfold capillaries by using video capillaroscopy in four patients, three of whom were female and carried the same pathogenic somatic EPAS1 variant allele (EPAS1A530V). The first patient is an 18-year-old female with a history of ventricular septal defect since birth, acrocyanosis, abdominal paraganglioma, left adrenal pheochromocytoma, and polycythemia. The second patient is a 64-year-old female who presented with paraganglioma without polycythemia, in whom we found the EPAS1A530V variant from hair sample, and an additional variant (EPAS1P53[1]A) in a resected paraganglioma, confirming the diagnosis. The third patient is a 33-year-old female had polycythemia, right adrenal pheochromocytoma, abdominal paragangliomas and duodenal somatostatinoma. The fourth patient is a 25-year-old male with PZS bearing a somatic EPAS1M535V pathogenic variant and an additional D536_L542 deletion, with hypoplastic left ventricle and metastatic paraganglioma who never developed polycythemia due to concomitant sickle cell-thalassemia traits. Despite the notable differences in genotype between the first three patients compared to the fourth patient, whose genotype is more complex, nailfold video capillaroscopy of all these patients showed similar phenotype—abnormal capillary structure marked by widespread dilations, megacapillaries, sporadic capillary hemorrhages, and regions with diminished capillary density. While polycythemia has been implicated in megacapillaries phenotype, two of our patients did not have polycythemia at the time of evaluation, further supporting the role of HIF-2a in angiogenesis. In conclusion, we describe nailfold capillary changes on video capillaroscopy as a non-invasive clinical sign in patients with EPAS1 pathogenic variants. Whether this finding is due to circulating angiogenic factors secreted by the tissues harboring HIF-2α mutation, or a direct effect of HIF-2α on angiogenesis remains to be determined.

Cost-utility of sirolimus in the treatment of vascular malformations.

Sirolimus is being increasingly employed to manage specific vascular anomalies. We performed an exploratory cost-utility analysis to evaluate sirolimus as a treatment for vascular malformations from the Australian healthcare system perspective. Over a one-year time horizon, sirolimus treatment was associated with an increased expenditure of AU$2832.80 and a gain of 0.08 quality-adjusted life years (QALYs) when compared to supportive care, resulting in an incremental cost-effectiveness ratio of AU$35,410/QALY. By most metrics, sirolimus would be considered a cost-effective treatment for vascular malformations.

Intramuscular vascular malformations in pediatric patients: a retrospective study in a vascular anomalies clinic.

Intramuscular vascular malformations (IVMs) are rare developmental congenital structural abnormalities. Their clinical diagnosis is difficult, and imaging studies are essential to determine the type and extent of vessels involved. Treatment can be challenging and must be managed by a multidisciplinary team. A descriptive, observational, retrospective, longitudinal study of clinical records of patients diagnosed with IVMs who were evaluated at the vascular anomalies clinic from January 2011 to December 2021 was performed. Demographic, clinical, imaging, diagnosis, treatment, and response data were collected. Seven patients (five females and two males) with a mean age of 13.66 years (standard deviation 5.82 years) were included in the study. In all cases, the clinical diagnosis was venous and lymphatic malformation. The radiological findings were dilated and tortuous vascular structures or multilobulated lesions with septa inside, with or without vascular flow; these findings allowed diagnosis in all cases. Treatment modalities included sclerotherapy in five patients, surgical resection in two, medical treatment with sirolimus in three, and surveillance in one. Subsequent clinical evolution was favorable in all patients, with decreased pain in six (partial in four and total in two) and size reduction in one patient. IVMs in our pediatric population most frequently affect the lower extremities. The main symptoms and signs were pain on exertion and volume increase. Treatment can be challenging given the extension and depth of the malformations, so a combination of therapeutic modalities may be necessary to obtain the best outcome.

Adjunctive venous sinus stenting in transvenous embolization of vein of Galen malformations.

Vein of Galen malformations are congenital arteriovenous malformations primarily treated by endovascular embolization via transarterial or transvenous approaches. transvenous embolization can be utilized to close the malformation but may be difficult in patients with venous stenosis or blockages, which drive venous hypertension and lead to significant neurologic consequences. Here, we illustrate the atypical placement of an intracranial venous sinus stent to improve outflow after transvenous embolization in pediatric patients with the vein of Galen malformation. A retrospective review of clinical databases at two high-volume endovascular centers from January 2018 to March 2023 identified all vein of Galen malformation patients who received a venous sinus stent during transvenous embolization. Clinical data, imaging, angioarchitecture, operative details, postoperative management, and follow-up were reviewed. Three patients presented for transvenous embolization after multiple staged transarterial embolizations of their vein of Galen malformation. Transvenous access was complicated by lateral sinus stenosis, which was temporarily relieved by balloon angioplasty. After transvenous embolization by pressure cooker technique, the dural sinuses were stented using the existing venous guide catheter. Venous angiography demonstrated improved flow across the stenosed areas and post-embolization angiography demonstrated normalized venous drainage with widely patent stents. One patient experienced postoperative oculomotor nerve palsy unrelated to the stent placement. All patients demonstrated a complete cure of their vein of Galen malformations with patent venous sinus stents on follow-up. In patients with the vein of Galen malformation and venous hypertension receiving transvenous embolization, venous sinus stenting may be a safe and effective option to reduce aberrant cortical venous drainage and improve normal outflow. Further studies are warranted to investigate its benefit in high-flow vascular malformations.

A Simple Model to Study Mosaic Gene Expression in 3D Endothelial Spheroids.

The goal of this study was to establish a simple model of 3D endothelial spheroids with mosaic gene expression using adeno-associated virus (AAV) transduction, with a future aim being to study the activity of post-zygotic mutations common to vascular malformations. In this study, 96-well U-bottom plates coated with a commercial repellent were seeded with two immortalized human endothelial cell lines and aggregation monitored using standard microscopy or live-cell analysis. The eGFP expression was used to monitor the AAV transduction. HUVEC-TERT2 could not form spheroids spontaneously. The inclusion of collagen I in the growth medium could stimulate cell aggregation; however, these spheroids were not stable. In contrast, the hCMEC/D3 cells aggregated spontaneously and formed reproducible, robust 3D spheroids within 3 days, growing steadily for at least 4 weeks without the need for media refreshment. The hCMEC/D3 spheroids spontaneously developed a basement membrane, including collagen I, and expressed endothelial-specific CD31 at the spheroid surface. Serotypes AAV1 and AAV2QUADYF transduced these spheroids without toxicity and established sustained, mosaic eGFP expression. In the future, this simple approach to endothelial spheroid formation combined with live-cell imaging could be used to rapidly assess the 3D phenotypes and drug and radiation sensitivities arising from mosaic mutations common to brain vascular malformations.

Imaging studies in evaluating children with stridor.

Stridor is a symptom of upper airway obstruction and may result from congenital or acquired causes. The diagnosis is usually clinical. If further investigation is necessary for differential diagnosis, endoscopy is the method of choice in most cases. Imaging studies are complementary to endoscopy. They allow evaluation of laryngeal and tracheobronchial pathology and extrinsic airway compressions due to tumors or vascular malformations and define a lesion's location, extent, and characteristics. They are helpful in cases of diagnostic doubt and when endoscopy is unavailable. It is essential to understand the anatomy and pathophysiology of the respiratory tract and to be aware of the indications and limitations of complementary examinations for proper diagnosis. The different imaging modalities available to evaluate stridor in pediatrics are described, and their advantages are discussed.

Atypical presentation of periorbital rhinosporidiosis: A rare case report

Periorbital rhinosporidiosis (PR) is an aquatic protistan parasitic infection that commonly affects mucous membranes of the nasal cavity. This report presents a case of PR mimicking a low-flow vascular malformation (VM) that was later diagnosed as an atypical case of PR. A 48-year-old male presented with a painless mass medially below the right eye’s lower lid, which progressively increased in size. Initial examination suggested a low-flow VM. However, histopathological analysis of the biopsy specimen confirmed the presence of rhinosporidiosis with features such as arteriovenous malformation. There is a need for a multidisciplinary approach to manage such cases.

S982 Efficacy and Safety of Hormonal Therapy in the Treatment of Bleeding From Gastrointestinal Vascular Malformations: A Systematic Review and Meta-analysis

S982 Efficacy and Safety of Hormonal Therapy in the Treatment of Bleeding From Gastrointestinal Vascular Malformations: A Systematic Review and Meta-analysis

AESTHETIC SURGICAL APPROACH FOR STURGE-WEBER SYNDROME AND FACIAL ARTERIOVENOUS TUMORS

Introduction: Sturge-Weber Syndrome (SWS) is a rare, congenital neurovascular condition associated with facial cutaneous capillary or venous malformations. The manifestations are intrinsically related to vascular malformations, resulting in neurological symptoms, soft tissue abnormalities, and restricted bone growth. Methodology: This is a case report of a single patient diagnosed with SWS, following the guidelines established by Resolution 466/12 of the National Health Council of Brazil (CNS). Results and Discussion: A Vascular Surgery approach with embolization was performed prior to the Plastic Surgery intervention. It is important to note that this particular patient did not present the common neurological manifestations. Additionally, port-wine stains manifested as giant hemangiomas on the face. Conclusion: A multidisciplinary team is essential for patients with this condition, as it can facilitate surgical resection when vascular studies are performed prior to surgery. Moreover, a multidisciplinary approach is crucial due to the varied clinical presentation and chronic conditions that require treatment.

Unusual Presentation of Confusion: Hyperammonaemic Hepatic Encephalopathy Due To Intrahepatic Portosystemic Venous Shunt In An Older Patient

Abstract Background Delirium is an acute, usually reversible neuropsychiatric syndrome and often presents as confusion, especially in the older population. Early detection and management of causes is vital to reduce mortality, morbidity, and long-term cognitive status decline. Intrahepatic portosystemic venous shunts are rare vascular malformations. These malformations can be congenital or acquired and may manifest as heart failure, hepatic encephalopathy, or pulmonary hypertension. Methods A 75-year-old man presented to the emergency department with a 5-week history of confusion, daytime somnolence, and fatigue. His physical examination was unremarkable. His symptoms were initially thought to be due to sub-optimally controlled Obstructive Sleep Apnoea. Nevertheless, his confusion progressed further during admission and required admission to the intensive care unit and intubation. Investigations initially showed deranged Liver function tests. Extensive investigations were done, including CT brain, MRI brain, septic screen, Arterial blood gas, and Lumbar puncture, which were all inconclusive. An Electroencephalogram was suggestive of Encephalopathy. His Ammonia level was high (123). Further investigations, Triphasic CT liver, revealed Intrahepatic portosystemic venous shunt and was diagnosed with hyperammonaemic hepatic encephalopathy due to Intrahepatic portosystemic venous shunt. Results Management included the commencement of lactulose, rifaximin, and L-ornithine L-aspartate (LOLA). An IR-guided embolisation of the porto-venous shunt was performed. At two-months review, the patient reported no further episodes of confusion. Conclusion Intrahepatic portosystemic venous shunts should be considered in the differential diagnosis of patients presenting with confusion or other unexplained neurological symptoms, especially in the presence of liver dysfunction. Early diagnosis and appropriate management are crucial for favourable outcomes.