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.
| Original language | English |
|---|---|
| Pages (from-to) | 381-384 |
| Number of pages | 4 |
| Journal | Journal of Child Neurology |
| Volume | 26 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - 2011 Mar 1 |
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Keywords
- ischemic stroke
- Joubert syndrome
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
Cite this
Joubert syndrome presenting with young-age onset ischemic stroke : A possible etiologic association. / Eun, Mi Yeon; Seok, Hung Youl; Kwon, Do-Young; Park, Moon Ho; Eun, So-Hee; Kang, Young Sun.
In: Journal of Child Neurology, Vol. 26, No. 3, 01.03.2011, p. 381-384.Research output: Contribution to journal › Article
}
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 - Eun, So-Hee
AU - Kang, Young Sun
PY - 2011/3/1
Y1 - 2011/3/1
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 - ischemic stroke
KW - Joubert syndrome
UR - http://www.scopus.com/inward/record.url?scp=79952687018&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=79952687018&partnerID=8YFLogxK
U2 - 10.1177/0883073810382908
DO - 10.1177/0883073810382908
M3 - Article
VL - 26
SP - 381
EP - 384
JO - Journal of Child Neurology
JF - Journal of Child Neurology
SN - 0883-0738
IS - 3
ER -