Diffusion imaging of the congenitally thickened corpus callosum

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

This report presents 4 subjects with congenital segmental callosal thickening, an uncommon malformation studied with MR imaging and DTI. Medical records were reviewed for genetic testing and neurodevelopmental status. Three subjects had profound developmental delay; 3 had seizures. MR imaging showed segmental thickening of the rostral and/or midcallosal body. Associated anomalies included polymicrogyria in 1 patient and optic hypoplasia in 1. DTI showed that the segmental thickening was due to anomalous longitudinal supracallosal fibers visually separable from the paired cingulum in 3 patients; in 1 patient, the cingulum was poorly formed. Genetic testing was negative for Fragile X syndrome. Microarray DNA analysis showed 3 copy losses (2q27.3, 3p21.31, 7q21.11) and 1 copy gain (8p11.23) in 1 patient, while testing in the other subject was negative for losses or gains. Potential explanations for the anomalous fibers include heterotopic cingulum, an enlarged indusium griseum, and aberrant callosal fibers.

Original languageEnglish (US)
Pages (from-to)660-665
Number of pages6
JournalAmerican Journal of Neuroradiology
Volume34
Issue number3
DOIs
StatePublished - Mar 2013

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Corpus Callosum
Genetic Testing
Fragile X Syndrome
Microarray Analysis
Medical Records
Seizures

ASJC Scopus subject areas

  • Clinical Neurology
  • Radiology Nuclear Medicine and imaging

Cite this

Diffusion imaging of the congenitally thickened corpus callosum. / Rollins, N. K.

In: American Journal of Neuroradiology, Vol. 34, No. 3, 03.2013, p. 660-665.

Research output: Contribution to journalArticle

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