Cavernous Malformation Hemorrhagic Presentation at Diagnosis Associated with Low 25-Hydroxy-Vitamin D Level

Abstract

Background: Cavernous malformations (CM) are angiographically occult vascular malformations that may be incidental or present with intracerebral or spinal hemorrhage, seizures, or nonhemorrhagic focal neurologic deficit (FND). Recently in vitro data have suggested vitamin D may play a role in stabilizing CCM2 endothelial cells. Little is known about the effect of vitamin D in human CM disease. Methods: Beginning in 2015, consecutive patients at our institution with radiologically confirmed CM were recruited to participate in a prospective clinical registry as well as 25-hydroxy-vitamin D study. A structured interview, survey, and examination were performed at baseline. Medical records and magnetic resonance imaging studies were reviewed and data collected included comorbid conditions, medication use, and location of CM. Standard definition of clinical hemorrhage, FND, and seizures was used. Univariate and multivariate logistic regression models were used, and OR, 95% CIs, and likelihood-ratio p values were calculated to de-

Multiple spinal intramedullary cavernous angiomas with bleeding episode mimicking an intramedullary tumor

“…Pathologically, they consist of endothelial-lined caverns lacking appropriately formed tight junctions. The vascular leak due to poorly formed tight junctions leads to the clinical consequences of the disease [8]. This condition can be sporadic or familial.…”

“…The incidence is about 3-5% of all central nervous system lesions and 5 -12% of all spinal vascular lesions, and 1% of all intramedullary lesions in paediatric patients [4,6,8]. More common in females and the peak age of presentation is in the fourth decade [12].…”

“…Clinical & Imaging Findings: Cavernous angioma may be asymptomatic or may have various clinical presentations [14]. Patients may come to medical attention due to intracerebral or spinal hemorrhage, seizure, focal neurological deficit without overt hemorrhage, or as an incidental finding [8]. Due to the location of the lesion, it will affect the neurological function of the patient, especially when the hemorrhage happened [5].…”

Safety of select headache medications in patients with cerebral and spinal cavernous malformations

“…Patients taking NA-NSAIDS were also more commonly taking vitamin D supplementation which has been suggested in preclinical and clinical data to play a potential protective role. 23 –25 Because many of the patients reporting use of NA-NSAIDs (48.7%) had presented with an incidental CM, our data may be best extrapolated to a similar demographic of patients; however, we do note that even among patients who used NA-NSAIDS after a prior CM hemorrhage, the risk of prospective CM hemorrhage remained low. We did not assess the timeframe at which a patient started taking NA-NSAIDS after a hemorrhage; however, it is our practice to avoid NA-NSAIDS in the immediate 3 to 6 months post-hemorrhage before considering intermittent, infrequent use (single standard doses less than four times monthly).…”

Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM)

“…In addition to expanding the spectrum of CCM gene functions, these findings also provide fundamental insights into the identification of biomarkers of prognostic and predictive value for the effective risk stratification and clinical management of CCM patients [ 20 , 21 , 35 , 55 , 56 ], as well as into the development of preventive and therapeutic approaches [ 22 , 29 , 30 , 57 , 58 , 59 , 60 , 61 , 62 , 63 ]. Furthermore, they also raise the intriguing possibility that CCM lesions may develop independently of CCM gene mutations, mainly as a consequence of a combination between inter-individual genetic variability in sensitivity to oxy-inflammatory conditions and local increases in such conditions.…”