RT Journal Article
SR Electronic
T1 Interpeduncular Heterotopia in Joubert Syndrome: A Previously Undescribed MR Finding
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 1286
OP 1289
DO 10.3174/ajnr.A2488
VO 32
IS 7
A1 I. Harting
A1 U. Kotzaeridou
A1 A. Poretti
A1 A. Seitz
A1 J. Pietz
A1 M. Bendszus
A1 E. Boltshauser
YR 2011
UL http://www.ajnr.org/content/32/7/1286.abstract
AB 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. CNScentral nervous systemGEgradient-echoJSRDJoubert syndrome and related disordersT1WIT1-weighted imagingT2WIT2-weighted imaging