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.
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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.
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|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:||05 Apr 2016 15:26|
|Publisher:||American Society of Neuroradiology|
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