Annals of Clinical and Translational Neurology (Oct 2021)
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 Malinger,
- Vincenzo Salpietro,
- Patrizia De Marco,
- Myriam Srour,
- Federico Zara,
- Valeria Capra,
- Andrea Rossi,
- Mariasavina Severino
Affiliations
- Andrea Accogli
- Medical Genetics Unit IRCCS Istituto Giannina Gaslini Genoa Italy
- Stacy Goergen
- Monash Imaging Monash Health Clayton Victoria Australia
- Giana Izzo
- Department of Pediatric Radiology and Neuroradiology V. Buzzi Children's Hospital Milan Italy
- Kshitij Mankad
- Neuroradiology Unit Great Ormond Street Hospital for Children London UK
- Karina Krajden Haratz
- Division of Ultrasound in ObGyn Lis Maternity Hospital Tel Aviv Sourasky Medical Center Affiliated to the Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel
- Cecilia Parazzini
- Department of Pediatric Radiology and Neuroradiology V. Buzzi Children's Hospital Milan Italy
- Michael Fahey
- Paediatric Neurology and Neurogenetics Units Monash Children’s Hospital Clayton Clayton Victoria Australia
- Lara Menzies
- Department of Clinical Genetics Great Ormond Street Hospital London UK
- Julia Baptista
- Exeter Genomics Laboratory Royal Devon and Exeter NHS Hospital Exeter UK
- Lucia Carpineta
- Department of Pediatric Medical Imaging Montreal Children's Hospital McGill University Montreal Quebec Canada
- Domenico Tortora
- Neuroradiology Unit IRCCS Istituto Giannina Gaslini Genoa Italy
- Ezio Fulcheri
- Fetal‐Perinatal Pathology Unit IRCCS Istituto Giannina Gaslini Genoa Italy
- Valerio Gaetano Vellone
- Department of Surgical Sciences and Integrated Diagnostics Università di Genova Genoa Italy
- Dario Paladini
- Fetal Medicine and Surgery Unit IRCCS Istituto Giannina Gaslini Genoa Italy
- Luigina Spaccini
- Clinical Genetics Unit Department of Obstetrics and Gynecology V. Buzzi Children's Hospital Milan Italy
- Valentina Toto
- Pathology Division Department of Health Sciences San Paolo Hospital University of Milan Milan Italy
- Claire Trayers
- Department of Paediatric Pathology Addenbrooke’s Hospital Cambridge UK
- Liat Ben Sira
- Pediatric Radiology Dana Children’s Hospital Tel Aviv Sourasky Medical Center Affiliated to the Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel
- Adi Reches
- Wolfe PGD‐ Stem Cell Lab Racine IVF Unit Lis Maternity Hospital Tel Aviv Sourasky Medical Center Affiliated to the Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel Genetic Institute Tel Aviv Sourasky Medical Center Tel Aviv Israel
- Gustavo Malinger
- Division of Ultrasound in ObGyn Lis Maternity Hospital Tel Aviv Sourasky Medical Center Affiliated to the Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel
- Vincenzo Salpietro
- Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genoa Genoa Italy
- Patrizia De Marco
- Medical Genetics Unit IRCCS Istituto Giannina Gaslini Genoa Italy
- Myriam Srour
- Department of Pediatrics Montreal Children's Hospital McGill University Health Center (MUHC) Montreal Canada
- Federico Zara
- Medical Genetics Unit IRCCS Istituto Giannina Gaslini Genoa Italy
- Valeria Capra
- Medical Genetics Unit IRCCS Istituto Giannina Gaslini Genoa Italy
- Andrea Rossi
- Neuroradiology Unit IRCCS Istituto Giannina Gaslini Genoa Italy
- Mariasavina Severino
- Neuroradiology Unit IRCCS Istituto Giannina Gaslini Genoa Italy
- DOI
- https://doi.org/10.1002/acn3.51448
- Journal volume & issue
-
Vol. 8,
no. 10
pp. 2004 – 2012
Abstract
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.
