title: Acute pediatric facial nerve paralysis as the first indication for familial cerebral cavernoma: case presentation and literature review.
abstract: 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.
authors.affiliation: Vanderbilt University School of Medicine, Nashville, TN, USA.
authors.forename: Pooyan
authors.initials: P
authors.lastname: Rohani
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Vanderbilt University Medical Center, Nashville, TN, USA.
authors.forename: Theodore R
authors.initials: TR
authors.lastname: McRackan
authors.affiliation: Department of Radiology and Radiological Sciences, Vanderbilt University Medical Center, Nashville, TN, USA.
authors.forename: Joseph M
authors.initials: JM
authors.lastname: Aulino
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Vanderbilt University Medical Center, Nashville, TN, USA. Electronic address: george.wanna@Vanderbilt.Edu.
authors.forename: George B
authors.initials: GB
authors.lastname: Wanna
mesh_terms: D000208:Acute Disease; D017089:Ankyrin Repeat; D016543:Central Nervous System Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D002648:Child; D003937:Diagnosis, Differential; D005155:Facial Nerve Diseases / Q000175:diagnosis / Q000209:etiology*; D005158:Facial Paralysis / Q000175:diagnosis / Q000209:etiology*; D017353:Gene Deletion; D020786:Hemangioma, Cavernous, Central Nervous System / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D000075927:KRIT1 Protein; D008279:Magnetic Resonance Imaging; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D011518:Proto-Oncogene Proteins / Q000235:genetics
chemical_list: D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins