UZH-Logo

Maintenance Infos

Interpeduncular heterotopia in Joubert syndrome: a previously undescribed MR finding


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.

Abstract

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.

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.

Citations

5 citations in Web of Science®
5 citations in Scopus®
Google Scholar™

Altmetrics

Downloads

1 download since deposited on 24 Jan 2012
0 downloads since 12 months
Detailed statistics

Additional indexing

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
Language:English
Date:2011
Deposited On:24 Jan 2012 13:57
Last Modified:05 Apr 2016 15:26
Publisher:American Society of Neuroradiology
ISSN:0195-6108
Publisher DOI:https://doi.org/10.3174/ajnr.A2488
PubMed ID:21636654
Permanent URL: https://doi.org/10.5167/uzh-56188

Download

[img]
Content: Published Version
Language: English
Filetype: PDF - Registered users only
Size: 727kB
View at publisher

TrendTerms

TrendTerms displays relevant terms of the abstract of this publication and related documents on a map. The terms and their relations were extracted from ZORA using word statistics. Their timelines are taken from ZORA as well. The bubble size of a term is proportional to the number of documents where the term occurs. Red, orange, yellow and green colors are used for terms that occur in the current document; red indicates high interlinkedness of a term with other terms, orange, yellow and green decreasing interlinkedness. Blue is used for terms that have a relation with the terms in this document, but occur in other documents.
You can navigate and zoom the map. Mouse-hovering a term displays its timeline, clicking it yields the associated documents.

Author Collaborations