Familial cavernomatosis with fatal supratentorial hemorrhage: case report

INTRODUCTION Cavernous malformations (CMs) are vascular anomalies prone to hemorrhage, often presenting with neurological deficits, seizures, or acute intracranial hemorrhage (ICH). Familial cavernomatosis, an autosomal dominant condition caused by mutations in the KRIT1, CCM2, or PDCD10 genes, is characterized by multifocal lesions and an increased risk of hemorrhage. Key risk factors include lesion location (infratentorial or deep structures), developmental venous anomalies (DVAs), and previous hemorrhages. This study presents a rare case of supratentorial hemorrhage in a familial context, discussing diagnostic, therapeutic, and prognostic challenges. CASE REPORT A 34-year-old female, chronic smoker, with familial cavernomatosis diagnosed by previous brain MRI with signs of hemorrhage (Figure 1) and a family history (mother and uncle deceased due to cavernoma-related hemorrhage), presented to the emergency room with an acute holocranial headache. Neurological examination revealed somnolence (GCS 10), left eye exotropia, and right hemiparesis. A head computed tomography (CT) scan identified a large hyperdense lesion in the left insular region with a midline shift (Figure 2), consistent with intraparenchymal hemorrhage (IPH). Emergency craniotomy with hematoma evacuation was performed, and the resected specimen was sent for histopathological examination (Figure 3). Despite successful lesion removal (Figure 4), postoperative complications included refractory hypotension, dysautonomia, and multiple organ failure, culminating in the patient’s death on day six. DISCUSSION Familial cavernomatosis poses a heightened risk of recurrent ICH due to genetic predisposition and multifocal lesions, as seen in this case. Lesions in deep or eloquent regions, such as the insular area, are particularly challenging due to their proximity to critical neural pathways and high surgical morbidity. Imaging modalities, particularly MRI with susceptibility-weighted sequences, are crucial in identifying high-risk lesions and planning surgical interventions. The patient’s fatal outcome highlights the compounded risks of deep-seated lesions, systemic complications, and genetic predisposition. Surgical resection remains the primary treatment for symptomatic lesions, but multifocal disease often requires a comprehensive, multidisciplinary approach including genetic counseling and rigorous follow-up. CONCLUSION Cerebral cavernous malformations, especially in familial cavernomatosis, pose a high risk of mortality due to recurrent hemorrhages and systemic complications. Despite advances in surgical techniques, this case emphasizes the importance of early diagnosis, tailored surgical strategies, and ongoing research to better predict outcomes in patients with this rare but severe condition.