L1CAM variants cause two distinct imaging phenotypes on fetal MRI
Andrea Accogli, Stacy Goergen, Giana Izzo, Kshitij Mankad, Karina Krajden Haratz, Cecilia Parazzini, Michael Fahey, Lara Menzies, Júlia Baptista, Lucia Carpineta, Domenico Tortora, Ezio Fulcheri, Valerio Gaetano Vellone, D. Paladini, Luigina Spaccini, Valentina Toto, Claire Trayers, Liat Ben‐Sira, Adi Reches, G. Malinger, Vincenzo Salpietro, Patrizia De Marco, Myriam Srour, Federico Zara, Valeria Capra, Andrea Rossi, Mariasavina Severino
Abstract
Data 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.