Pelvic arteriovenous malformation (AVM) with recurrent hematuria: A case report
Ontology highlight
ABSTRACT:
SUBMITTER: Nazari I
PROVIDER: S-EPMC10509810 | biostudies-literature | 2023 Aug
REPOSITORIES: biostudies-literature
Similar Datasets
Project description:Capillary malformation-arteriovenous malformation (CM-AVM) is a clinical entity newly identified in 2003 that is caused by mutation of the RASA-1 gene, which encodes the protein p120-RasGAP. To date, most of the clinical reports on CM-AVM in the literature involve samples entirely consisting of Caucasians of European and North American descent, while reports from China or East Asia are few. Here, we describe a genetic clinical report of CM-AVM. Sequencing revealed a novel stop mutation in the RASA-1 gene causing loss of function (LOF) of the RasGAP domain. To our knowledge, this is the first genetic clinical report of a CM-AVM patient in East Asia. This report may extend our understanding and support further studies of CM-AVM in East Asia.
| S-EPMC6048896 | biostudies-literature
Project description:Pelvic arteriovenous malformation (AVM) is a rare vascular condition with diverse clinical manifestations. Treatment-related decision-making is difficult for concurrent AVMs and colon cancer. Interventional radiology is effective for colon cancer patients with pelvic AVM. Herein, a 77-year-old man presented with fatigue. Computed tomography revealed thickening of the sigmoid colon wall without lymph node swelling or distant metastasis, confirming irregularly dilated pelvic blood vessels. Preoperative transcatheter embolization of the AVM was initially performed. Then, laparoscopic sigmoidectomy was performed without complications following confirmation of AVM shrinkage via computed tomography. The patient was discharged without complications. Thus, preoperative pelvic AVM embolization in patients with sigmoid colon cancer may facilitate safe minimally invasive surgery.
| S-EPMC11842171 | biostudies-literature
Project description:We report the third presentation of an intermixed arteriovenous malformation and hemangioblastoma. The rare occurrence of the diagnostic histologic features of both a neoplasm and vascular malformation in a single lesion is more common in gliomas, as angioglioma, and is termed an 'intermixed' lesion. We review the literature concerning the developmental biology of each lesion, and potential interplay in the formation of an intermixed vascular neoplasm and vascular malformation. The roles of cellular origin, genetic susceptibility, favourable microenvironment, altered local gene expression and key regulatory pathways are reviewed. Our review supports angiography and genetic profiling in intermixed lesions to inform management strategies. Consideration should be given to multimodality therapeutic interventions as required, including microsurgical resection, stereotactic radiosurgery and further research to exploit emerging molecular targets.
| S-EPMC7737198 | biostudies-literature
Project description:BackgroundCollagen VI-related myopathies are a spectrum of muscular diseases with features of muscle weakness and atrophy, multiple contractures of joints, distal hyperextensibility, severe respiratory dysfunction and cutaneous alterations, attributable to mutations in the COL6A1, COL6A2, and COL6A3 genes. However, no case of collagen VI mutations with hematuria has been reported. We report a 14-year-old boy who had both Bethlem myopathy and recurrent hematuria and who carried a known de novo COL6A1 missense mutation c.877G > A (p.G293R).Case presentationThe patient was a 14-year-old boy presenting with muscle weakness from 3 years of age without any family history. Six months before admission, he developed recurrent gross hematuria, three bouts in total, with the presence of blood clots in the urine. Next-generation sequencing of his whole-exome was performed. The result of sequencing revealed a de novo heterozygous G-to-A nucleotide substitution at position 877 in exon 10 of the COL6A1 gene. After treatment, the hematuria healed, but the muscle weakness failed to improve.ConclusionsHematuria in Bethlem myopathy can be caused by COL6 mutations, which may be related to the aberrant connection between collagen VI and collagen IV.
| S-EPMC6390614 | biostudies-literature
Project description:BackgroundArteriovenous malformations (AVM) of the urinary tract are extremely rare. To the best of our knowledge, only three case of AVM of the ureter have been described in the literature so far.Case presentationWe present an additional, fourth case of an AVM of the ureter, clinically presented as asymptomatic haematuria and an obstructive process in the left ureter. Ureteroscopic evaluation revealed a fibroepithelial polypoid-like lesion in the proximal ureter. After biopsy showed a benign lesion, the lesion was treated with the 2-μm continuous wave (cw) thulium laser. Histopathological examination revealed a polypoid laesion caused by a circumscribed arteriovenous malformation. Almost four years after operation the patient remains asymptomatic and free of recurrence.ConclusionArteriovenous malformations of the urinary tract are extremely rare. We presented a fourth case of a arteriovenous malformation of the ureter.
| S-EPMC5504856 | biostudies-literature
Project description:Arteriovenous malformations of the brain (bAVMs) are plexuses of pathological arteries and veins that lack a normal capillary system between them. Intracranial hemorrhage (hemorrhagic stroke) is the most frequent clinical manifestation of AVM, leading to lethal outcomes that are especially high among children and young people. Recently, high-throughput genome sequencing methods have made a notable contribution to the research progress in this subject. In particular, whole-exome sequencing (WES) methods allow the identification of novel mutations. However, the genetic mechanism causing AVM is still unclear. Therefore, the aim of this study was to investigate the potential genetic mechanism underlying AVM. We analyzed the WES data of blood and tissue samples of a 30-year-old Central Asian male diagnosed with AVM. We identified 54 polymorphisms in 43 genes. After in-silica overrepresentation enrichment analysis of the polymorphisms, the SIRT1 gene variant (g.67884831C>T) indicated a possible molecular mechanism of bAVM. Further studies are required to evaluate the functional impact of SIRT1 g.67884831C>T, which may warrant further replication and biological investigations related to sporadic bAVM.
| S-EPMC9601721 | biostudies-literature
Project description:Introduction and importanceUterine arteriovenous malformations are a rare but potentially life-threatening condition. They may be congenital or acquired and should be suspected in cases of severe or persistent uterine hemorrhage.Case presentationWe present the clinical case of a 32-year-old woman who suffered from bleeding after a spontaneous miscarriage. Uterine arteriovenous malformation with trophoblastic retention was suspected on ultrasound and Doppler examination. Magnetic resonance imaging confirmed the diagnosis, leading to embolization of both uterine arteries, followed by operative hysteroscopy to remove the retained tissue, with a favorable outcome.Clinical discussionUterine arteriovenous malformation is rare, with fewer than 100 cases reported in the literature (1). It is a potentially fatal condition due to the heavy bleeding that patients may experience. Color Doppler ultrasound (US) is a non-invasive method for initially diagnosing this rare condition, which can be confirmed by diagnostic angiography. A conservative approach or embolization is the preferred treatment to avoid hysterectomy in patients of childbearing age.ConclusionsThis case report emphasizes the use of ultrasound and MRI to diagnose a uterine AVM in a patient of childbearing age who presented with post-partum retention of products. It also showcases our experience with embolization in this patient, which allowed her to preserve her fertility.
| S-EPMC11618002 | biostudies-literature
Project description:Hemoptysis is a common presenting symptom of hereditary hemorrhagic telangiectasia (HHT), an often overlooked diagnosis in the emergency setting. Patient history often includes telangiectasias, epistaxis, visceral lesions, and a family history of similar findings. Here, we review a case of HHT in a young woman, presenting initially with hemoptysis. Imaging was significant for large left upper lobe arteriovenous malformation (AVM), requiring patient admission and interventional radiology embolization of the AVM. The purpose of this report is to highlight a diagnosis that is important not to miss in the emergency department.TopicsPulmonary arteriovenous malformation, hereditary hemorrhagic telangiectasia, Osler-Weber-Rendu syndrome.
| S-EPMC10332757 | biostudies-literature
Project description:Sonographic findings of cerebral arteriovenous malformations in the fetus are uncommon and usually regard aneurysm of the Galen vein. Outcome of arteriovenous malformations is usually severe. We report a case of a fetus at 21 weeks' gestation with a rarer arteriovenous malformation, referred to us for echocardiography on account of a suspicious cardiomegaly at obstetrical scan. Upon examination, we found cardiomegaly, together with an associated moderate tricuspid regurgitation, however, there were no clear features of tricuspid dysplasia. Considering an unusually dilated superior vena cava, we found via color Doppler imaging a systodiastolic flow at Color Doppler progressing. Subsequent MRI of the central nervous system determined the localization in the sinus dura mater. Due to an already evident hemodynamic impact, the parents opted for the termination of the pregnancy. Autopsy confirmed a voluminous arteriovenous malformation of the transverse sinus of the dura mater, severe cardiomegaly, mainly of the ventricles, and hypoplasia of the lungs.
| S-EPMC8464898 | biostudies-literature
Project description:Abernethy malformation (Type 1B) presenting in a 6-year-old boy with hematochezia and hematuria: a case report Abernethy malformation is a rare congenital vascular abnormality defined by the diversion of portal blood flow to the inferior vena cava or its tributaries. Clinical presentations include neonatal cholestasis, liver tumors, and encephalopathy but variables in timing and symptomatology. Herein, we present a 6-year-old boy was referred to our hospital with complaints of hematochezia, hematuria, fecal, and urinary incontinence. A diagnosis of type 1b malformation was made depending on magnetic resonance angiography and cardiac catheterization findings, which demonstrated that the superior mesenteric vein and splenic vein joined to form a common trunk measuring 38 mm diameter and then drained into the dilated inferior vena cava with the absence of portal vein abnormalities in the liver. With further investigations, we indicated the presence of many arteriovenous malformations and urogenital abnormalities. The patient was managed conservatively.
| S-EPMC9283795 | biostudies-literature