Acute pediatric facial nerve paralysis as the first indication for familial cerebral cavernoma: Case presentation and literature review ★

Familial cerebral cavernoma is an autosomal dominant phenotype with incomplete clinical and neuroimaging penetrance. The most common clinical manifestations include seizures and cerebral hemorrhage. We present the case of a 7-year-old boy who developed acute onset facial nerve paralysis secondary to previously unknown familial cerebral cavernoma. Genetic workup revealed a KRIT1 gene deletion which was later confirmed in the patient’s asymptomatic father and younger brother.