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

作者：Rohani Pooyan; McRackan Theodore R; Aulino Joseph M; Wanna George B^*

来源：American Journal of Otolaryngology, 2014, 35(2): 211-214.

DOI：10.1016/j.amjoto.2013.09.007

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.

• 出版日期2014-4