Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-56188
Harting, I; Kotzaeridou, U; Poretti, A; Seitz, A; Pietz, J; Bendszus, M; Boltshauser, E (2011). Interpeduncular heterotopia in Joubert syndrome: a previously undescribed MR finding. AJNR. American Journal of Neuroradiology, 32(7):1286-1289.
|Published Version (English)|
PDF - Registered users only
View at publisher
The so-called molar tooth sign is the radiologic hallmark of JSRD. Joubert syndrome is a rare, most often autosomal-recessive disorder with a characteristic malformation of the midhindbrain. We describe 3 patients with JSRD and the additional MR finding of tissue resembling heterotopia in the interpeduncular fossa, which in one patient was combined with a more extensive intramesencephalic heterotopia. Interpeduncular heterotopia has not been reported previously, either in the context of JSRD or as a separate entity. This new imaging feature enlarges the spectrum of brain stem abnormalities in JSRD. In view of the underlying ciliopathy, it seems likely that the interpeduncular heterotopia results from misdirected migration.
1 download since deposited on 24 Jan 2012
0 downloads since 12 months
|Item Type:||Journal Article, refereed, original work|
|Communities & Collections:||04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic|
|Dewey Decimal Classification:||610 Medicine & health|
|Deposited On:||24 Jan 2012 13:57|
|Last Modified:||04 Dec 2013 16:45|
|Publisher:||American Society of Neuroradiology|
Users (please log in): suggest update or correction for this item
Repository Staff Only: item control page