Postoperative Dural Arteriovenous Fistula in a Patient with Cowden Disease: A Case Report

Sadahiro, Hirokazu; Ishihara, Hideyuki; Goto, Hisaharu; Oka, Fumiaki; Shirao, Satoshi; Yanagawa, Hiroshi; Suzuki, Michiyasu

doi:10.1016/j.jstrokecerebrovasdis.2013.04.021

Cited by 12 publications

(5 citation statements)

References 20 publications

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“…Immunohistochemical findings of the removed dura mater revealed that the abnormal vessels were diffusely positive for VEGF, which might have resulted in neovascularization of the dura mater. 13) This fact may support our therapeutic strategy.…”

Section: Discussionmentioning

confidence: 72%

Spinal Extradural Arteriovenous Fistula with Cowden Syndrome: A Case Report and Literature Review Regarding Pathogenesis and Therapeutic Strategy

Takei

Tochigi

Arai

et al. 2018

NMC Case Report Journal

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We report the case of a patient with a spinal extradural arteriovenous fistula (AVF) associated with Cowden syndrome (CS) that was successfully treated by endovascular surgery. CS is an autosomal dominant disorder associated with diverse symptoms caused by a deleterious mutation in the phosphatase and tensin homolog (PTEN) gene. A 67-year-old woman was diagnosed with CS based on her medical history of multiple cancers for which she underwent abdominal surgery, macrocephaly, Lhermitte-Duclos disease, and facial papules. Her genetic testing demonstrated a PTEN mutation. She presented with progressive paraparesis and her MRI of the thoracolumbar spine showed the spinal cord edema along with flow voids. A spinal angiogram demonstrated a spinal extradural AVF with the perimedullary drainage. The AVF was successfully treated by endovascular surgery. The PTEN mutation can accelerate angiogenesis; thus, vascular anomalies are one of the diagnostic criteria of CS. However, only two cases of vascular anomalies involving the spinal cord in patients with CS have been reported previously. As the present case, both cases had a history of abdominal or retroperitoneal cancer. The PTEN mutation accompanied with abdominal surgery might have caused this vascular anomaly as the consequences of venous congestion around the thoracolumbar spine. A spinal extradural AVF should be considered in patients with CS who present with myelopathy, especially when the patient has a history of abdominal or retroperitoneal surgery. Regarding the treatment strategy, endovascular surgery should be considered because surgical insult could prompt secondary vascular anomalies resulting from neovascularization due to the PTEN mutation.

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Section: Discussionmentioning

confidence: 72%

Spinal Extradural Arteriovenous Fistula with Cowden Syndrome: A Case Report and Literature Review Regarding Pathogenesis and Therapeutic Strategy

Takei

Tochigi

Arai

et al. 2018

NMC Case Report Journal

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“…This patient was reapproached to treat the dAVF. This case suggests that postoperative angiogenesis may cause AVF in patients with CS ( 23 ). Determining whether PTEN insufficiency alone or other molecular factors in the PI3K/Akt/VEGF signaling contribute to these angiogenic formations is difficult ( 24 ).…”

Section: Discussionmentioning

confidence: 82%

Case report: Association between PTEN-gene variant and an aggressive case of multiple dAVFs

Jong-A-Liem,

Sarti,

dos Santos

et al. 2024

Front. Neurol.

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IntroductionMutations of the phosphatase and tensin homolog (PTEN) gene have been associated with a spectrum of disorders called PTEN hamartoma tumor syndrome, which predisposes the individual to develop various types of tumors and vascular anomalies. Its phenotypic spectrum includes Cowden syndrome (CS), Bannayan–Riley–Ruvalcaba syndrome (BRRS), Proteus syndrome, autism spectrum disorders (ASD), some sporadic cancers, Lhermitte–Duclos disease (LDD), and various types of associated vascular anomalies.Clinical presentationA previously healthy 27-year-old woman was experiencing visual scintillating scotomas and mild chronic headaches for the past 2 years. The initial computed tomographic (CT) and magnetic resonance imaging (MRI) scans did not reveal any abnormalities, but the possibility of pseudotumor cerebri was considered. Furthermore, a cerebral angiogram showed a posterior fossa dural arteriovenous fistula (dAVF), which was initially treated through embolization. However, in spite of proper treatment, this patient experienced multiple recurrent dAVFs in different locations, requiring multiple embolizations and surgeries. Despite exhibiting altered cerebral perfusion and hemodynamics, the patient did not display any significant symptoms until she experienced a sudden stroke resulting from deep venous thrombosis, which was not associated with any medical procedures or medication use. A comprehensive analysis was performed due to the aggressive nature of the dAVFs. Surprisingly, exome sequencing of a blood sample revealed a PTEN gene variant in chromosome 10, indicative of Cowden syndrome. However, no tumors or other vascular lesions were detected in other systems that would constitute Cowden syndrome.ConclusionThe rapid formation of multiple and complex dAVFs, coupled with not meeting the criteria for any other PTEN-related syndrome, unequivocally leads to the presentation of a novel phenotype of the PTEN germline variant.

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“…DAVF after craniotomy is relatively rare, with few cases having been reported secondary to sinus thrombosis. In our literature review (Table 1), we found 25 cases of DAVF developing after craniotomy; [8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26] 23 were directly related to the site of craniotomy and 2 appeared at different sites. There were 14 cases that developed after suboccipital craniotomy, 10 that represented postoperative stenosis or occlusion of the SS, and 2 that reflected postoperative thrombosis of the SS on imaging findings.…”

Section: Discussionmentioning

confidence: 99%

Development of a sigmoid sinus dural arteriovenous fistula secondary to sigmoid sinus thrombosis after resection of a foramen magnum meningioma: illustrative case

Yajima

Miyawaki

Koizumi

et al. 2022

Journal of Neurosurgery: Case Lessons

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BACKGROUND The precise etiology of dural arteriovenous fistula (DAVF) is still unknown. The authors reported a case of delayed postoperative sigmoid sinus (SS) DAVF secondary to SS thrombosis after resection of a foramen magnum meningioma through a suboccipital craniotomy. OBSERVATIONS The authors visualized the clear architecture of the DAVF using fusion three-dimensional computer graphics (3DCG) images reconstructed from multimodal imaging studies. These fusion 3DCG images revealed that the feeders of the DAVF had connected through neovascularization to the SS at the previous thrombus site. The authors also reviewed previously reported cases of DAVFs that developed after craniotomy. LESSONS This study indicated that SS stenosis and occlusion with sinus thrombosis are possible risk factors for delayed postoperative DAVF that demand special consideration.

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Postoperative Dural Arteriovenous Fistula in a Patient with Cowden Disease: A Case Report

Cited by 12 publications

References 20 publications

Spinal Extradural Arteriovenous Fistula with Cowden Syndrome: A Case Report and Literature Review Regarding Pathogenesis and Therapeutic Strategy

Spinal Extradural Arteriovenous Fistula with Cowden Syndrome: A Case Report and Literature Review Regarding Pathogenesis and Therapeutic Strategy

Case report: Association between PTEN-gene variant and an aggressive case of multiple dAVFs

Development of a sigmoid sinus dural arteriovenous fistula secondary to sigmoid sinus thrombosis after resection of a foramen magnum meningioma: illustrative case

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