L1CAM variants cause two distinct imaging phenotypes on fetal MRI

Authors

Andrea Rossi, IRCCS Istituto Giannina Gaslini - Genova
Andrea Accogli, IRCCS Istituto Giannina Gaslini - Genova
Stacy Goergen, Monash Health
Giana Izzo, Ospedale dei Bambini Vittore Buzzi
Kshitij Mankad, University College London
Haratz K Krajden
Cecilia Parazzini, Ospedale dei Bambini Vittore Buzzi
Michael Fahey, Monash Children’s Hospital Clayton
Lara Menzies, University College London
Julia Baptista, Peninsula Medical School
Lucia Carpineta, McGill University
Domenico Tortora, IRCCS Istituto Giannina Gaslini - Genova
Ezio Fulcheri, IRCCS Istituto Giannina Gaslini - Genova
Vellone V Gaetano
Dario Paladini, IRCCS Istituto Giannina Gaslini - Genova
Luigina Spaccini, Ospedale dei Bambini Vittore Buzzi
Valentina Toto, University of Milan
Claire Trayers, Cambridge University Hospitals NHS Foundation Trust
Sira L Ben
Adi Reches, Tel Aviv University
Gustavo Malinger, Tel Aviv University
Vincenzo Salpietro, IRCCS Istituto Giannina Gaslini - Genova
Marco P De
Myriam Srour, McGill University
Federico Zara, IRCCS Istituto Giannina Gaslini - Genova
Valeria Capra, IRCCS Istituto Giannina Gaslini - Genova
Mariasavina Severino, IRCCS Istituto Giannina Gaslini - Genova

ORCID

• Julia Baptista: 0000-0003-0915-5028

Abstract

AbstractData on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR imaging patterns in 10 fetuses harboring L1CAM mutations: the first, observed in 9 fetuses was characterized by callosal anomalies, diencephalosynapsis, and a distinct brainstem malformation with diencephalic–mesencephalic junction dysplasia and brainstem kinking. Cerebellar vermis hypoplasia, aqueductal stenosis, obstructive hydrocephalus, and pontine hypoplasia were variably associated. The second pattern observed in one fetus was characterized by callosal dysgenesis, reduced white matter, and pontine hypoplasia. The identification of these features should alert clinicians to offer a prenatal L1CAM testing.

DOI

10.1002/acn3.51448

Publication Date

2021-01-01

Publication Title

Annals of Clinical and Translational Neurology

Volume

8

Issue

10

Embargo Period

9999-12-31

First Page

2004

Last Page

2012

Recommended Citation

Rossi, A., Accogli, A., Goergen, S., Izzo, G., Mankad, K., Krajden, H., Parazzini, C., Fahey, M., Menzies, L., Baptista, J., Carpineta, L., Tortora, D., Fulcheri, E., Gaetano, V., Paladini, D., Spaccini, L., Toto, V., Trayers, C., Ben, S., Reches, A., Malinger, G., Salpietro, V., De, M., Srour, M., Zara, F., Capra, V., & Severino, M. (2021) 'L1CAM variants cause two distinct imaging phenotypes on fetal MRI', Annals of Clinical and Translational Neurology, 8(10), pp. 2004-2012. Available at: 10.1002/acn3.51448" >https://doi.org/10.1002/acn3.51448