TY - JOUR
T1 - Joubert syndrome presenting with young-age onset ischemic stroke
T2 - A possible etiologic association
AU - Eun, Mi Yeon
AU - Seok, Hung Youl
AU - Kwon, Do Young
AU - Park, Moon Ho
AU - So-Hee, Eun
AU - Kang, Young Sun
PY - 2011/3
Y1 - 2011/3
N2 - Joubert syndrome is a rare genetic disorder of childhood that is characterized by hypoplasia or agenesis of the cerebellar vermis in addition to brainstem malformations. Ataxia, hypotonia, developmental delay, and apnea-hyperpnea are the most prominent clinical symptoms of Joubert syndrome, but this condition can also affect multiple organs, making the clinical phenomenology of Joubert syndrome quite diverse. Seizures are the most common neurological complications of Joubert syndrome, but its neurological sequelae are poorly described because Joubert syndrome is very rare. Here we report an acute ischemic stroke in a 21-year-old woman with Joubert syndrome who had no conventional risk factors for early onset cerebrovascular disease. To date, this is the first report of an ischemic stroke in a patient with Joubert syndrome, and we believe this case may suggest an association between Joubert syndrome and extremely early onset cerebrovascular disease.
AB - Joubert syndrome is a rare genetic disorder of childhood that is characterized by hypoplasia or agenesis of the cerebellar vermis in addition to brainstem malformations. Ataxia, hypotonia, developmental delay, and apnea-hyperpnea are the most prominent clinical symptoms of Joubert syndrome, but this condition can also affect multiple organs, making the clinical phenomenology of Joubert syndrome quite diverse. Seizures are the most common neurological complications of Joubert syndrome, but its neurological sequelae are poorly described because Joubert syndrome is very rare. Here we report an acute ischemic stroke in a 21-year-old woman with Joubert syndrome who had no conventional risk factors for early onset cerebrovascular disease. To date, this is the first report of an ischemic stroke in a patient with Joubert syndrome, and we believe this case may suggest an association between Joubert syndrome and extremely early onset cerebrovascular disease.
KW - Joubert syndrome
KW - ischemic stroke
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U2 - 10.1177/0883073810382908
DO - 10.1177/0883073810382908
M3 - Article
C2 - 21115747
AN - SCOPUS:79952687018
VL - 26
SP - 381
EP - 384
JO - Journal of Child Neurology
JF - Journal of Child Neurology
SN - 0883-0738
IS - 3
ER -