Familial cerebral cavernous malformations

Abstract

Background: Cerebral cavernous malformations (CCM) present with varied symptoms and are diagnosed only on MRI, which shows characteristic appearances. Genetic factors play a role, with familial cases following an autosomal dominant inheritance pattern. Case: This is the clinical case of a 48-year-old woman with a history of long-standing arterial hypertension. She was admitted to the Stroke Department with headache, nausea, vomiting, right-sided sensory disturbance, and dysarthria. Based on the clinical presentation and MRI, multiple supraand infratentorial and intraxial lesions with heterogeneous components were identified, exhibiting hypointense rings on T1and T2-weighted sequences and a “blooming” effect on T2*/GRE sequences, characteristic of cerebral cavernomas, displaying a “popcorn” appearance. Conclusion: In CCM, management requires a multidisciplinary approach, with surgical resection the gold standard for symptomatic cases. Accurate determination of familial or sporadic origin is crucial for tailored treatment.