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, Julia Baptista, Lucia Carpineta, Domenico Tortora, Ezio Fulcheri, Valerio Gaetano Vellone, Dario Paladini, Luigina Spaccini, Valentina Toto, Claire Trayers, Liat Ben Sira, Adi Reches, Gustavo MalingerVincenzo Salpietro, Patrizia De Marco, Myriam Srour, Federico Zara, Valeria Capra, Andrea Rossi, Mariasavina Severino

Research output: Contribution to journalArticleResearchpeer-review

8 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)2004-2012
Number of pages9
JournalAnnals of Clinical and Translational Neurology
Issue number10
Publication statusPublished - Oct 2021
Externally publishedYes

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