Filippo Arrigoni1, Romina Romaniello2, Denis Peruzzo3, Andrea Righini4, Cecilia Parazzini4, Paola Colombo5, Maria Teresa Bassi6, Fabio Triulzi7, Renato Borgatti2. 1. Neuroimaging Laboratory, Scientific Institute IRCCS Eugenio Medea, Via don Luigi Monza 20, 23842, Bosisio Parini, Lecco, Italy. filippo.arrigoni@bp.lnf.it. 2. Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy. 3. Neuroimaging Laboratory, Scientific Institute IRCCS Eugenio Medea, Via don Luigi Monza 20, 23842, Bosisio Parini, Lecco, Italy. 4. Department of Pediatric Radiology and Neuroradiology, Children Hospital V. Buzzi, Milano, Italy. 5. Child Psychopathology Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy. 6. Laboratory of Molecular Biology, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy. 7. Neuroradiology Department, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milano, Italy.
Abstract
OBJECTIVE: To describe the MRI and structural features of a peculiar malformation of the corpus callosum (CC) in a group of young patients with intellectual disability. METHODS: We studied with conventional MRI and DTI a group of subjects showing an aberrant supracallosal bundle, characterized by the presence of a triangle-shaped bulging above the dorsal surface of CC on the midline. Clinical evaluations, CGH-array and instrumental analysis were also collected. RESULTS: Among 85 patients with malformed CC, we identified 15 subjects that showed the supracallosal bundle. The CC was thickened in five cases, long and thinned in three cases, short and thinned in three cases and it had a "ribbon-like" appearance in four subjects. Additional brain anomalies were present in eight cases. DTI colour maps and tractography showed that the bundle had an antero-posterior longitudinal orientation and that the tract bifurcated posteriorly, ending in the posterior hippocampi. Patients had different combinations of neurological symptoms, but all showed mild or severe intellectual disability. CONCLUSIONS: Combining radiological and genetic data with embryological knowledge of the development of cerebral commissures, we hypothesize that the supracallosal bundle represents a vestigial structure, the dorsal fornix, present during fetal life. Its persistence is associated with intellectual disability. KEY POINTS: • An aberrant longitudinal bundle can be detected above corpus callosum. • The presence of the supracallosal bundle is associated with intellectual disability. • The supracallosal bundle may represent a persistent dorsal fornix.
OBJECTIVE: To describe the MRI and structural features of a peculiar malformation of the corpus callosum (CC) in a group of young patients with intellectual disability. METHODS: We studied with conventional MRI and DTI a group of subjects showing an aberrant supracallosal bundle, characterized by the presence of a triangle-shaped bulging above the dorsal surface of CC on the midline. Clinical evaluations, CGH-array and instrumental analysis were also collected. RESULTS: Among 85 patients with malformed CC, we identified 15 subjects that showed the supracallosal bundle. The CC was thickened in five cases, long and thinned in three cases, short and thinned in three cases and it had a "ribbon-like" appearance in four subjects. Additional brain anomalies were present in eight cases. DTI colour maps and tractography showed that the bundle had an antero-posterior longitudinal orientation and that the tract bifurcated posteriorly, ending in the posterior hippocampi. Patients had different combinations of neurological symptoms, but all showed mild or severe intellectual disability. CONCLUSIONS: Combining radiological and genetic data with embryological knowledge of the development of cerebral commissures, we hypothesize that the supracallosal bundle represents a vestigial structure, the dorsal fornix, present during fetal life. Its persistence is associated with intellectual disability. KEY POINTS: • An aberrant longitudinal bundle can be detected above corpus callosum. • The presence of the supracallosal bundle is associated with intellectual disability. • The supracallosal bundle may represent a persistent dorsal fornix.
Entities:
Keywords:
Brain; Corpus callosum; Diffusion tensor imaging; Intellectual disability; Magnetic resonance imaging
Authors: F Arrigoni; D Peruzzo; S Mandelstam; G Amorosino; D Redaelli; R Romaniello; R Leventer; R Borgatti; M Seal; J Y-M Yang Journal: AJNR Am J Neuroradiol Date: 2020-07-30 Impact factor: 3.825
Authors: F Arrigoni; R Romaniello; D Peruzzo; A De Luca; C Parazzini; E M Valente; R Borgatti; F Triulzi Journal: AJNR Am J Neuroradiol Date: 2017-08-24 Impact factor: 3.825