Familial Cerebral Cavernous Malformations: A Case Report

Abstract

Aims: Describe the main imaging findings of familial cerebral cavernous malformations. Presentation of Case: This is the clinical case of a 68-year-old woman with a history of type 2 diabetes mellitus and long-standing systemic arterial hypertension. She presents to the neurology outpatient clinic reporting dizziness, temporal-spatial disorientation, episodes of amnesia, and chronic insomnia. Based on the clinical presentation, a diagnosis of cognitive impairment, likely of vascular origin. The MRI reveals multiple supratentorial and intraxial lesions with heterogeneous components, exhibiting a hypointense ring on T1 and T2-weighted sequences with images demonstrate a "blooming" effect on the T2*/GRE sequence, characteristic of cerebral cavernomas, displaying a "popcorn" appearance. Discussion: In the presented case, a patient with multiple cerebral cavernomas showing classic features on MRI was discussed. Clinical manifestations commonly involving seizures, hemorrhage, and focal neurological deficits. Genetic factors play a role, with familial cases following an autosomal dominant inheritance pattern. Imaging studies, particularly MRI with susceptibility-weighted imaging, aid in diagnosis, revealing characteristic "popcorn" appearance lesions. Other differential diagnoses for cerebral hemorrhages should be considered, including vascular brain malformations and conditions like cerebral amyloid angiopathy and hypertensive encephalopathy. Management involves a multidisciplinary approach, with surgical resection being the gold standard for symptomatic cases. Conclusion: Cerebral cavernous malformations (CCM) present varied symptoms, diagnosed through MRI showcasing characteristic appearances. Accurate determination of familial or sporadic origin is crucial for tailored treatment, involving medical therapy, surgical resection, or radiosurgery. Multidisciplinary collaboration among specialties ensures personalized management for patients with CCM.