Research ArticleORIGINAL RESEARCH
Neuroradiologic, clinic and genetic characterization of cerebellar heterotopia: a pediatric multicentric study
Ludovica Pasca, Filippo Arrigoni, Romina Romaniello, Maria Savina Severino, Davide Politano, Fulvio D’Abrusco, Jessica Garau, Valentina De Giorgis, Adriana Carpani, Sabrina Signorini, Simona Orcesi, Felice D’Arco, Enrico Alfei, Elisa Cattaneo, Elisa Rognone, Sara Uccella, Maria Teresa Divizia, Paolo Infantino, Enza Maria Valente, Renato Borgatti and Anna Pichiecchio
American Journal of Neuroradiology October 2024, ajnr.A8450; DOI: https://doi.org/10.3174/ajnr.A8450
Ludovica Pasca
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Filippo Arrigoni
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Romina Romaniello
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Maria Savina Severino
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Davide Politano
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Fulvio D’Abrusco
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Jessica Garau
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Valentina De Giorgis
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Adriana Carpani
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Sabrina Signorini
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Simona Orcesi
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Felice D’Arco
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Enrico Alfei
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Elisa Cattaneo
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Elisa Rognone
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Sara Uccella
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Maria Teresa Divizia
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Paolo Infantino
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Enza Maria Valente
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Renato Borgatti
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Anna Pichiecchio
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
This article requires a subscription to view the full text. If you have a subscription you may use the login form below to view the article. Access to this article can also be purchased.
ABSTRACT
Background and purpose: Cerebellar heterotopia (CH) is a neuroradiological abnormality poorly reported and investigated in the literature. It can be observed as an isolated finding, but it has been mainly reported in the context of cerebellar dysgenesis and in syndromic conditions. The aim of this study is to provide a comprehensive neuroradiological, clinical, and genetic characterization of a cohort of pediatric patients with cerebellar heterotopia.
Materials and methods: Patients with a diagnosis of CH were systematically selected from the neuroimaging databases of the four Italian Centers participating in this retrospective study. For each patient, information regarding demographic, clinical, genetic and neuroradiological data were collected.
Results: Thirty-two pediatric patients were recruited and subdivided into two groups: patients with isolated CH and/or cerebellar malformations (n= 18) and patients with CH associated with cerebral malformations (n=14). Isolated CH consistently showed a peripheral subcortical localization in the inferior portion of cerebellar hemispheres, with either unilateral or bilateral distribution. Ten patients belonging to the second group had a diagnosis of CHARGE syndrome, and their nodules of CH were mainly but not exclusively bilateral, symmetric, located in the peripheral subcortical zone and in the inferior portion of the cerebellar hemispheres; the remaining 4 patients of the second group, showed either bilateral or unilateral CH, located in both peripheral cortex and deep white matter and in the superior and inferior portions of cerebellum. Patients with isolated CH showed high prevalence of language development delay; neurodevelopmental disorders were the most represented clinical diagnoses. Recurring features were behavioral problems and motor difficulties. A conclusive genetic diagnosis was found in 18/32 patients.
Conclusions: We found distinctive neuroradiological patterns of CH. Genetic results raise the possibility of a correlation between cerebellar morphological and functional developmental disruption, underscoring the importance of CH detection and reporting to orient the diagnostic path.
Abbreviations CH Cerebellar heterotopia; MRI Magnetic resonance imaging; CC Corpus callosum; ASD autism spectrum disorder; IVH inferior vermian hypoplasia.
Footnotes
The Authors declare no competing interests.
- © 2024 by American Journal of Neuroradiology
ASNR members
Login to the site using your ASNR member credentials
Log in using your username and password
Log in through your institution
You may be able to gain access using your login credentials for your institution. Contact your library if you do not have a username and password.
Advertisement
Accepted Manuscript
Ludovica Pasca, Filippo Arrigoni, Romina Romaniello, Maria Savina Severino, Davide Politano, Fulvio D’Abrusco, Jessica Garau, Valentina De Giorgis, Adriana Carpani, Sabrina Signorini, Simona Orcesi, Felice D’Arco, Enrico Alfei, Elisa Cattaneo, Elisa Rognone, Sara Uccella, Maria Teresa Divizia, Paolo Infantino, Enza Maria Valente, Renato Borgatti, Anna Pichiecchio
Neuroradiologic, clinic and genetic characterization of cerebellar heterotopia: a pediatric multicentric study
American Journal of Neuroradiology Oct 2024, ajnr.A8450; DOI: 10.3174/ajnr.A8450
0 Responses
Accepted Manuscript
Neuroradiologic, clinic and genetic characterization of cerebellar heterotopia: a pediatric multicentric study
Ludovica Pasca, Filippo Arrigoni, Romina Romaniello, Maria Savina Severino, Davide Politano, Fulvio D’Abrusco, Jessica Garau, Valentina De Giorgis, Adriana Carpani, Sabrina Signorini, Simona Orcesi, Felice D’Arco, Enrico Alfei, Elisa Cattaneo, Elisa Rognone, Sara Uccella, Maria Teresa Divizia, Paolo Infantino, Enza Maria Valente, Renato Borgatti, Anna Pichiecchio
American Journal of Neuroradiology Oct 2024, ajnr.A8450; DOI: 10.3174/ajnr.A8450
Jump to section
Related Articles
Cited By...
- No citing articles found.
This article has not yet been cited by articles in journals that are participating in Crossref Cited-by Linking.
More in this TOC Section
Similar Articles
Advertisement