Aberrant supracallosal longitudinal bundle: MR features, pathogenesis and associated clinical phenotype

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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.

Original languageEnglish
Pages (from-to)2587-2596
JournalEuropean Radiology
Volume26
Issue number8
DOIs
Publication statusPublished - 2016

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Corpus Callosum
Intellectual Disability
Phenotype
Agenesis of Corpus Callosum
Hippocampus
Color
Brain

Keywords

  • Brain
  • Corpus callosum
  • Diffusion tensor imaging
  • Intellectual disability
  • Magnetic resonance imaging

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

Cite this

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title = "Aberrant supracallosal longitudinal bundle: MR features, pathogenesis and associated clinical phenotype",
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.",
keywords = "Brain, Corpus callosum, Diffusion tensor imaging, Intellectual disability, Magnetic resonance imaging",
author = "Filippo Arrigoni and Romina Romaniello and Denis Peruzzo and Andrea Righini and Cecilia Parazzini and Paola Colombo and Bassi, {Maria Teresa} and Fabio Triulzi and Renato Borgatti",
year = "2016",
doi = "10.1007/s00330-015-4084-6",
language = "English",
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pages = "2587--2596",
journal = "European Radiology",
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TY - JOUR

T1 - Aberrant supracallosal longitudinal bundle

T2 - 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

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