Intracranial venous malformations: Incidence and characterization in a large pediatric cohort

Abstract

Background Significant advances have been reported recently in the genetic and mechanistic characterization of extracranial venous malformations. However, intracranial purely venous malformations (icVM) analogous to those outside the CNS have not been systematically described. Purpose We sought to ascertain whether such an entity as icVM could in fact be identified, distinct from previously described CNS venous anomalies and analogous to extracranial venous malformations. Methods Our prospectively collected pediatric cerebrovascular database was reviewed to identify patients with icVM; 1458 consecutive angiograms and/or angiographic interventions performed on 706 children at our institution from October, 2006 through May, 2019 were evaluated, in addition to outside imaging studies on 192 additional patients sent to our Vascular Anomalies Center for cerebrovascular review during the same time period. Thus, the cohort consisted of 898 children. Results Nineteen of 898 patients (2.1%) were found to harbor icVM, including 9 (47.3%) with sinus pericranii, 15 (78.9%) with associated large, complex extracranial venous malformations, and 3 (15.7%) with neurocognitive delay. There was no intracranial hemorrhage or venous hypertension seen in the cohort. Asymptomatic venous thrombosis in the superior sagittal sinus was seen in three patients. Conclusion Venous malformations, both extracranial and icVM, share many characteristics that are distinct from developmental venous anomalies. icVM were not associated with venous hypertension. The underlying genetic mutations involved in the development of icVM, germ-line or somatic, remain to be elucidated, but may very well involve shared mechanisms and pathways with extracranial venous malformations.

Rapidly growing sinus pericranii within a short period: a case report

“…It appears when lying at and lowering the head and shrinks or disappears when raising the head and standing, increases when compressing the jugular vein or performing Valsalva maneuvers, and shrinks when squeezing. [4] Most of the lesions were located in the frontoparietal, close to the midline region, frontal (43%), followed by parietal (36%) and occipital (7.4%). The lesion in this patient was located in the midline region of the forehead.…”

Intracranial venous malformation masquerading as a meningioma in PI3KCA‐related overgrowth spectrum disorder

“…They have not previously been identified in intracranial venous malformation. icVMs are rare, and in a large pediatric cohort investigating 898 patients undergoing cerebral angiograms, icVMs were identified in only 2.1% of patients (Chen et al, 2021). Interestingly, PI3KCA variants have recently also been identified in a subset of cerebral cavernous malformations, which are typically considered capillary malformations (Ren et al, 2021).…”

“…And though intracranial high flow arteriovenous malformations can occur in CLOVES syndrome, PIK3CA variants have not previously been identified in clinically significant, purely icVM, as in the case presented here (Martinez‐Lopez et al, 2017). The entity of icVMs was only recently described by Chen et al, based on angiographic characteristics and MRI appearance; given both the rarity and the limited indication for surgical resection they did not show histopathologic correlates (Chen et al, 2021). This distinction of a purely venous vascular malformation versus that of an arteriovenous shunt is an extremely important one from a diagnostic and treatment standpoint.…”

Unusual suprasellar vascular malformation mimicking a tumour in a girl presenting with subacute vision loss

“…Lymphatic–venous malformations are rare lesions that arise congenitally from aberrant development of the embryonic vasculature 1–4. These ‘slow-flow’ malformations customarily grow pari passu alongside the developing child and can thus elude clinical detection, often for years 1 5–7.…”