TY - JOUR
T1 - Acute pediatric facial nerve paralysis as the first indication for familial cerebral cavernoma
T2 - Case presentation and literature review
AU - Rohani, Pooyan
AU - McRackan, Theodore R.
AU - Aulino, Joseph M.
AU - Wanna, George B.
PY - 2014/3
Y1 - 2014/3
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84896703431&partnerID=8YFLogxK
U2 - 10.1016/j.amjoto.2013.09.007
DO - 10.1016/j.amjoto.2013.09.007
M3 - Article
C2 - 24156886
AN - SCOPUS:84896703431
SN - 0196-0709
VL - 35
SP - 211
EP - 214
JO - American Journal of Otolaryngology - Head and Neck Medicine and Surgery
JF - American Journal of Otolaryngology - Head and Neck Medicine and Surgery
IS - 2
ER -