RESUMEN
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.
RESUMEN
Cavernous malformations (CMs) are rare and often oligosymptomatic vascular lesions. The main symptoms include seizure and focal neurologic deficits.1-3 Depending on the symptomatology, location, size, and risk factors for bleeding, like the presence of a developmental venous anomaly, CMs can be highly morbid. Thus surgical resection may be considered. Deep-seated and eloquent CMs, like those in the uncus, can be challenging.4,5 In Video 1, we present a 23-year-old male adult who developed focal seizures (i.e., oral automatisms) after an episode of sudden intense headache 1 year ago. His neurologic examination was unremarkable. The patient consented to the procedure and publication of his image. Nevertheless, his magnetic resonance images showed an uncal 2-cm Zabramski type I CM. We exposed the insula and its limen through a right pterional craniotomy and transsylvian corridor. During the video, we discuss the surgical nuances to access and resect this CM lesion en bloc while preserving important vascular structures and white matter tracts. Postoperative neuroimaging demonstrated total resection. In postoperative day 1, the patient had 1 episode of generalized seizure and evolved with contralateral hemiparesis. The patient had a good recovery and was discharged on postoperative day 21. At the 6-month follow-up, the patient had no new epileptic events and presented complete weakness improvement. Through this minimally invasive and well-known surgical corridor, we preserve the mesial and lateral portion of the temporal lobe, reducing the risk of lesions to the Meyer loop and limbic association area.
RESUMEN
The aneurysmal subarachnoid hemorrhage is a major public health problem described as a sudden drastic event with no warning symptoms and high morbidity and mortality rates. The role of the endothelial isoform of nitric oxide synthase gene polymorphism in intracranial aneurysms (IAs) is still a matter of controversy with divergent findings among European, American, and Asian populations. Our study purposed to test the association between intracranial aneurysms formation and nitric oxide gene polymorphisms through a systematic review and meta-analysis. Systematic search on Medline, Lilacs, and EMBASE was performed. The primary search resulted in 139 papers, out of which 9 met our inclusion criteria after a full text analysis. The dominant T786C model found a significant association with IA (OR 1.22, 95 % CI 1.04-1.44, p = 0.01), so did studies of the recessive T786C model (OR 0.37, 95 % CI 0.30-0.45, p < 0.0001) but with opposite effect. Our findings support the presence of the T786C polymorphism as a predictor for the development of intracranial aneurysm in the cerebral vascular system. More studies are necessary in order to elucidate the pathways of the endothelial nitric oxide synthase (eNOS) in cerebrovascular diseases and in defining how different allelic combinations of the eNOS gene single-nucleotide polymorphism (SNP) could favor this pathological process.
