TY - JOUR
T1 - Aberrant supracallosal longitudinal bundle: MR features, pathogenesis and associated clinical phenotype
AU - Arrigoni, Filippo
AU - Romaniello, Romina
AU - Peruzzo, Denis
AU - Righini, Andrea
AU - Parazzini, Cecilia
AU - Colombo, Paola
AU - Bassi, Maria Teresa
AU - Triulzi, Fabio
AU - Borgatti, Renato
PY - 2016
Y1 - 2016
N2 - 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.
AB - 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.
KW - Brain
KW - Corpus callosum
KW - Diffusion tensor imaging
KW - Intellectual disability
KW - Magnetic resonance imaging
KW - Radiology, Nuclear Medicine and Imaging
KW - Brain
KW - Corpus callosum
KW - Diffusion tensor imaging
KW - Intellectual disability
KW - Magnetic resonance imaging
KW - Radiology, Nuclear Medicine and Imaging
UR - http://hdl.handle.net/10807/134525
UR - http://www.link.springer.de/link/service/journals/00330/index.htm
U2 - 10.1007/s00330-015-4084-6
DO - 10.1007/s00330-015-4084-6
M3 - Article
SN - 0938-7994
VL - 26
SP - 2587
EP - 2596
JO - European Radiology
JF - European Radiology
ER -