• Journal of Interdisciplinary Genomics
• /
• v.4 no.2
• /
• pp.31-34
• /
• 2022

Background: Arteriovenous malformations (AVMs) are rare diseases comprising abnormally dilated arteries and veins with an absence of a capillary network. Since these diseases are intractable after diagnosis, various treatment strategies have been examined, with continuous efforts to identify target genes. Here, we report relevant new target genes selected via gene microarray. Methods: Endothelial cells were isolated from samples collected from three patients with AVM and three healthy individuals, followed by microarray analysis. Additionally, quantitative PCR was performed to select genes highly relevant to AVM. Results: In the vascular endothelial cells derived from the tissues of patients with AVM, the expression of ANGPT1, ANGPT2, DLL4, IL6, NRG1, TGFBR1, and VEGFA was typically higher compared to those derived from normal tissues. Conclusion: Seven candidate genes were selected to analyze the pathophysiological mechanism of AVM. These results may aid in future directions of diagnosis and treatment.

• Journal of the Korean Society of Radiology
• /
• v.84 no.2
• /
• pp.489-497
• /
• 2023

Intracranial dural arteriovenous fistula (DAVF) is an abnormal arteriovenous shunt accounting for approximately 10%-15% of all intracranial vascular malformations. Most intracranial DAVFs are solitary, but multiple lesions at different sites can rarely occur. Most intracranial multiple DAVFs are synchronous types, whereas metachronous lesions are relatively uncommon. Herein, we report a rare case of metachronous DAVF occurring after the embolization of a preceding lesion in a 75-year-old female.

• Archives of Craniofacial Surgery
• /
• v.21 no.2
• /
• pp.109-113
• /
• 2020

Sinus pericranii is a rare vascular anomaly characterized by abnormal venous communication between the inner and outer regions of the cranial cavity. Here, we report a case of sinus pericranii and venous malformations in the right periorbital region of a 2-year-old girl. Radiologic findings showed venous malformations in the right parietal region communicating with the superior sagittal sinus in the intracranial region. There were notable improvements following surgical resection for the abnormal venous lesions and several sclerotherapies. Presence of a bluish and pulsating mass on the scalp, which showed bruit on auscultation, may indicate sinus pericranii, which should be included in the differential diagnosis.

• Journal of the Korean Society of Radiology
• /
• v.82 no.3
• /
• pp.688-692
• /
• 2021

Cervicovaginal venous malformations are extremely rare. Sclerotherapy is proven to be effective for superficial venous malformations but not for venous malformations in the lower genital tract of female. A 52-year-old female presented with intermittent vaginal bleeding. The amount of vaginal bleeding gradually increased over 3 months. Contrast-enhanced pelvis CT showed several phleboliths and dilated vessels, but pelvic angiography showed no early draining veins, nidus, or feeding artery. We performed transvaginal direct puncture and ethanol sclerotherapy rather than surgical treatment because she wanted to preserve the uterus. After four sessions of sclerotherapy, she had significantly decreased vaginal bleeding without complications. Here, we report the first case of cervicovaginal venous malformations successfully treated with transvaginal direct puncture and ethanol sclerotherapy.

• Journal of Korean Neurosurgical Society
• /
• v.57 no.1
• /
• pp.65-67
• /
• 2015

Cavernous hemangiomas were first reported in 1929 by Globus and Doshay, and are defined as benign vascular structures developed between the neural tissues occurring in the central nervous system, consisting of a dilated vascular bed. Cavernous hemangiomas comprise nearly 5-12% of all spinal vascular malformations; however, existence in the epidural space without bone involvement is rare. Only 4% of all cavernous hemangiomas (0.22/1.000.000) are purely epidural cavernous hemangiomas. In this case report, we removed a hemorrhagic thoracic mass presenting with progressive neurological deficits in a 55-year-old male patient. We found this case to be appropriate for presentation due to the rare occurrence of this type of cavernous hemangioma.

• Journal of Korean Neurosurgical Society
• /
• v.45 no.3
• /
• pp.196-198
• /
• 2009

Hemifacial spasm (HFS) is almost always induced by vascular compression but in some cases the cause of HFS are tumors at cerebellopontine angle (CPA) or vascular malformations. We present a rare case of hemifacial spasm caused by epidermoid tumors and the possible pathogenesis of HFS is discussed. A 36-year-old female patient presented with a 27-month history of progressive involuntary facial twitching and had been treated with acupuncture and herb medication. On imaging study, a mass lesion was seen at right CPA. Microvascular decompression combined with mass removal was undertaken through retrosigmoid approach. The lesion was avascular mass and diagnosed with an epidermoid tumor pathologically. Eventually, we found a offending vessel (AICA : anterior inferior cerebellar artery) compressing facial nerve root exit zone (REZ). In case of HFS caused by tumor compression on the facial nerve REZ, surgeons should try to find an offending vessel under the mass. This case supports the vascular compression theory as a pathogenesis of HFS.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• v.23 no.1
• /
• pp.72-78
• /
• 2020

Infantile hepatic hemangioma, the most common vascular tumor of the liver in infancy, can occur with acute postnatal liver and congestive heart failure. Nevertheless, its course is often benign, and many children can be diagnosed and treated without surgical intervention. The distinction from malignant diseases is not always easy and it not clear whether invasive procedures for diagnosis and therapy should be performed. Here we report our experiences in our Center for Pediatric Liver Disease and postulate that large studies are needed to avoid unnecessary invasive procedures for these patients in the future.

• Archives of Plastic Surgery
• /
• v.34 no.3
• /
• pp.399-402
• /
• 2007

Purpose: Arteriovenous fistula is one of high flow vascular malformations. Recently, arteriovenous fistula has been regarded as one of the type of arteriovenous malformations. The patients were diagnosed as arteriovenous malformation Schobinger clinical stage II. Even though arteriovenous fistula rarely occurs on head and neck, treatment of that is difficult due to frequent recurrence. In treating the arteriovenous fistula, chemical embolization, surgical excision and other treatment modalities were used, but the results were not satisfactory. The authors experienced three cases of arteriovenous fistula and treated them with surgical excision. Methods: In cases, warmth, enlargement, pulsation, thrill, and bruit were found. For the accurate evaluation before the operation, angiography and MRI were checked in advance. Incision was made on the site of pulsation. The artery and vein connected to the arteriovenous fistula were dissected widely, individually ligated, and divided. And then the entire mass was totally removed. Results: All surgical sites were healed well without complications and there was no evidence of recurrence in all cases up to for 2 years of follow-up examination. Conclusion: The arteriovenous fistula on face is a very rare disease and has difficulties in treatment. The authors experienced three cases of arteriovenous fistula with complete surgical removal and no recurrence was found in all cases.

• Journal of Korean Neurosurgical Society
• /
• v.45 no.1
• /
• pp.46-49
• /
• 2009

Developmental venous anomalies (DVAs) are hemodynamically low flow, low resistance vascular malformations without clinical significance. Although most DVAs are asymptomatic and are found incidentally, sometimes they can be symptomatic with intracerebral hemorrhage, many of which are usually caused by associated cavernous malformations (CMs) rather than the DVAs themselves. Only a few cases have been reported in the literature where an intracerebral hemorrhage has been caused by a DVA alone. This report describes a case of an intracerebral hemorrhage due to DVA alone with review of the literature.

• Clinical and Experimental Pediatrics
• /
• v.50 no.10
• /
• pp.1018-1023
• /
• 2007

Hereditary hemorrhagic telagiectasia (HHT), which is characterized by the classic triad of mucocutaneous telangiectases, arteriovenous malformations (AVMs) and inheritance, is an autosomal dominant disorder. The characteristic manifestations of HHT are all due to abnormalities of the vascular structure. This report deals with the case of a 14-year-old girl with typical features of HHT that include recurrent epistaxis, mucocutanous telangiectases, pulmonary and cerebral AVMs and a familial occurrence.