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

Introduction: Mutations 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 presentation: A 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. Conclusion: The 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.

Recurrent Artery of Heubner Guiding the Clip Application for Internal Carotid Artery Bifurcation Aneurysm: 2-Dimensional Operative Video.

Aneurysms of the bifurcation of the internal carotid artery (ICA) represent approximately 5% of intracranial aneurysms and tend to occur in younger patients.1-3 They typically have a superior orientation, in close relationship with the medial (branches of the anterior cerebral artery, segment A1) and lateral (branches of the middle cerebral artery, segment M1) lenticulostriate arteries (LSA), including recurrent artery of Heubner (RAH). RAH commonly originates in the junction of A1 and A2, courses medially to laterally between LSA and anterior cerebral artery, ICA bifurcation, and middle cerebral artery before entering the lateral portion of the anterior perforated substance.4-7 Damage to these arteries are catastrophic. This complex vascular anatomy makes treatment challenging, either endovascular or microsurgical.8-13 We present a video case of microsurgical clipping for the left ICA bifurcation aneurysm. This study was approved by the ethics committee of our institution. The patient, a 46-year-old man, was diagnosed with an unruptured ICA bifurcation aneurysm during workup for intermittent headache. Morphological characteristics of the aneurysm supported intervention over conservative treatment. Digital subtraction angiography showed a prominent proximal RAH crossing between the aneurysm neck and LSA, providing anatomical protection for clip application. Microsurgical clipping was chosen, and the procedure went uneventfully. The patient consented to the procedure and to the publication of his/her image. We discussed and demonstrated throughout the video how we used this anatomic variation and trajectory of the RAH to prevent clipping of LSA unwittingly and achieve complete occlusion of the aneurysm neck.

Combined treatment for a hemispheric cerebellar AVM.

Posterior fossa arteriovenous malformations (AVMs) can be a challenging disease, especially those large in size. AVMs can be treated with a combination of endovascular treatment and microsurgery. Here, the authors present the case of a 16-year-old female patient with progressive dizziness and episodic syncope. The workup of the patient showed a hemispheric cerebellar AVM, Spetzler-Martin grade IV. She underwent combined treatment (endovascular and microsurgery) with no complications and cure of the malformation. The video can be found here: https://youtu.be/rNw_Kyd76Mg.

Microsurgical Clipping of Low-Riding Basilar Bifurcation Aneurysm.

Basilar bifurcation is a challenging site for aneurysm clipping. Anatomical factors such as size and projection of the aneurysm, distance between the aneurysm neck and the dorsum sellae, and location of the basilar bifurcation contribute to surgical complexity. Endovascular treatment has been used more frequently than microsurgical clipping, especially for posterior circulation lesions. Thus, the upcoming generation of neurosurgeons will have increasingly less access to the microsurgical treatment of such lesions. We present the case of a 45-year-old female patient who presented sudden mental confusion characterized by disorientation in time, space, and person. Investigative acute cerebral magnetic resonance imaging revealed diffusion restriction in the left posterior cerebral and superior cerebellar arteries. The clinical and cardiologic investigations revealed no abnormalities, but computed tomographic angiography and digital arteriography revealed a low-riding basilar bifurcation aneurysm and a very small aneurysm in the right internal carotid artery. The wide neck precluded coil embolization, and the appropriate stent was not covered by our public health insurance. Considering the young age, surgical treatment was proposed. Microsurgical clipping was performed using the right pre-temporal approach. In this two-dimensional video, we show the steps to reach the low-riding basilar bifurcation aneurysm neck. The positioning, transzygomatic pterional craniotomy, intradural anterior clinoidectomy, and posterior cavernous sinus opening are shown, and the surrounding anatomy is illustrated.