Joubert Syndrome Presenting With Young-Age Onset Ischemic Stroke: A Possible Etiologic Association

Abstract

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.