Abstract
In Joubert syndrome, the "molar tooth" sign can be associated with several additional supra-And infratentorial malformations. Here we report on 3 subjects (2 siblings, 8-14 years of age) with Joubert syndrome, showing an abnormal thick bulging of the anterior profile of the mesencephalon causing a complete obliteration of the interpeduncular fossa. DTI revealed that the abnormal tissue consisted of an ectopic white matter tract with a laterolateral transverse orientation. Tractographic reconstructions support the hypothesis of impaired axonal guidance mechanisms responsible for the malformation. The 2 siblings were compound heterozygous for 2 missense variants in the TMEM67 gene, while no mutations in a panel of 120 ciliary genes were detected in the third patient. The name "anterior mesencephalic cap dysplasia," referring to the peculiar aspect of the mesencephalon on sagittal MR imaging, is proposed for this new malformative feature.
| Original language | English |
|---|---|
| Pages (from-to) | 2385-2390 |
| Number of pages | 6 |
| Journal | American Journal of Neuroradiology |
| Volume | 38 |
| Issue number | 12 |
| DOIs | |
| Publication status | Published - Dec 1 2017 |
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ASJC Scopus subject areas
- Radiology Nuclear Medicine and imaging
- Clinical Neurology
Cite this
Anterior mesencephalic cap dysplasia : Novel brain stem malformative features associated with joubert syndrome. / Arrigoni, F.; Romaniello, R.; Peruzzo, D.; De Luca, A. D.; Parazzini, C.; Valente, E. M.; Borgatti, R.; Triulzi, F.
In: American Journal of Neuroradiology, Vol. 38, No. 12, 01.12.2017, p. 2385-2390.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Anterior mesencephalic cap dysplasia
T2 - Novel brain stem malformative features associated with joubert syndrome
AU - Arrigoni, F.
AU - Romaniello, R.
AU - Peruzzo, D.
AU - De Luca, A. D.
AU - Parazzini, C.
AU - Valente, E. M.
AU - Borgatti, R.
AU - Triulzi, F.
PY - 2017/12/1
Y1 - 2017/12/1
N2 - In Joubert syndrome, the "molar tooth" sign can be associated with several additional supra-And infratentorial malformations. Here we report on 3 subjects (2 siblings, 8-14 years of age) with Joubert syndrome, showing an abnormal thick bulging of the anterior profile of the mesencephalon causing a complete obliteration of the interpeduncular fossa. DTI revealed that the abnormal tissue consisted of an ectopic white matter tract with a laterolateral transverse orientation. Tractographic reconstructions support the hypothesis of impaired axonal guidance mechanisms responsible for the malformation. The 2 siblings were compound heterozygous for 2 missense variants in the TMEM67 gene, while no mutations in a panel of 120 ciliary genes were detected in the third patient. The name "anterior mesencephalic cap dysplasia," referring to the peculiar aspect of the mesencephalon on sagittal MR imaging, is proposed for this new malformative feature.
AB - In Joubert syndrome, the "molar tooth" sign can be associated with several additional supra-And infratentorial malformations. Here we report on 3 subjects (2 siblings, 8-14 years of age) with Joubert syndrome, showing an abnormal thick bulging of the anterior profile of the mesencephalon causing a complete obliteration of the interpeduncular fossa. DTI revealed that the abnormal tissue consisted of an ectopic white matter tract with a laterolateral transverse orientation. Tractographic reconstructions support the hypothesis of impaired axonal guidance mechanisms responsible for the malformation. The 2 siblings were compound heterozygous for 2 missense variants in the TMEM67 gene, while no mutations in a panel of 120 ciliary genes were detected in the third patient. The name "anterior mesencephalic cap dysplasia," referring to the peculiar aspect of the mesencephalon on sagittal MR imaging, is proposed for this new malformative feature.
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UR - http://www.scopus.com/inward/citedby.url?scp=85038571362&partnerID=8YFLogxK
U2 - 10.3174/ajnr.A5360
DO - 10.3174/ajnr.A5360
M3 - Article
AN - SCOPUS:85038571362
VL - 38
SP - 2385
EP - 2390
JO - American Journal of Neuroradiology
JF - American Journal of Neuroradiology
SN - 0195-6108
IS - 12
ER -