Top

BMC Neurology

Published in:

Open Access 01-12-2015 | Research article

Morphometric variability of neuroimaging features in Children with Agenesis of the Corpus Callosum

Authors: Jason Bennett Neal, Christopher G. Filippi, Richard Mayeux

Published in: BMC Neurology | Issue 1/2015

Abstract

Background

Agenesis of the corpus callosum (ACC) is a developmental brain malformation associated with a wide spectrum of structural brain abnormalities and genetic loci. To characterize the diverse callosal morphologies and malformations of brain development associated with ACC, we report on the neuroimaging findings of 201 individuals diagnosed with corpus callosal abnormalities.

Methods

We searched through medical records of individuals seen at New York Presbyterian Hospital between 2002 and 2013 and thought to have ACC. We confirmed 201 individuals meeting criteria and used magnetic resonance imaging to characterize morphological variants of the corpus callosum and associated brain malformations.

Results

The majority of individuals displayed hypoplasia or dysplasia of the corpus callosum (N = 160, 80 %). Forty-one (20 %) displayed complete agenesis of the corpus callosum with other abnormalities, while only 18 (9 %) displayed complete agenesis without associated brain abnormalities. White matter abnormalities were more frequent in hypoplasia or dysplasia group than complete agenesis (28.2 % vs 9.8 %, p < 0.05). In contrast, hippocampal abnormalities, colpocephaly, and Probst bundles were significantly more frequent in complete agenesis compared to hypoplasia or dysplasia group.

Conclusions

Collectively, our results underscore the broad diversity of morphological variants of the corpus callosum and associated brain abnormalities in individuals with ACC.

Wahl M, Lauterbach-Soon B, Hattingen E, et al. Human motor corpus callosum: topography, somatotopy, and link between microstructure and function. J Neurosci. 2007;27(45):12132–8. doi: 10.1523/JNEUROSCI.2320-07.2007[published Online First: Epub Date]|.CrossRefPubMed

Rakic P, Yakovlev PI. Development of the corpus callosum and cavum septi in man. J Comp Neurol. 1968;132(1):45–72. doi: 10.1002/cne.901320103[published Online First: Epub Date]|.CrossRefPubMed

Dobyns WB. Absence makes the search grow longer. Am J Hum Genet. 1996;58(1):7–16.PubMedPubMedCentral

Jeret JS, Serur D, Wisniewski K, et al. Frequency of agenesis of the corpus callosum in the developmentally disabled population as determined by computerized tomography. Pediatr Neurosci. 1985;12(2):101–3.CrossRefPubMed

Paul LK, Brown WS, Adolphs R, et al. Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. Nat Rev Neurosci. 2007;8(4):287–99. doi: 10.1038/nrn2107[published Online First: Epub Date]|.CrossRefPubMed

O’Driscoll MC, Black GC, Clayton-Smith J, et al. Identification of genomic loci contributing to agenesis of the corpus callosum. Am J Med Genet A. 2010;152A(9):2145–59. doi: 10.1002/ajmg.a.33558[published Online First: Epub Date]|.CrossRefPubMed

Sztriha L. Spectrum of corpus callosum agenesis. Pediatr Neurol. 2005;32(2):94–101. doi: 10.1016/j.pediatrneurol.2004.09.007[published Online First: Epub Date]|.CrossRefPubMed

Hetts SW, Sherr EH, Chao S, et al. Anomalies of the corpus callosum: an MR analysis of the phenotypic spectrum of associated malformations. AJR Am J Roentgenol. 2006;187(5):1343–8. doi: 10.2214/AJR.05.0146[published Online First: Epub Date]|.CrossRefPubMed

Hanna RM, Marsh SE, Swistun D, et al. Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families. Neurology. 2011;76(4):373–82. doi: 10.1212/WNL.0b013e318208f492[published Online First: Epub Date]|.CrossRefPubMedPubMedCentral

10.

Torgyekes E, Shanske AL, Anyane-Yeboa K, et al. The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature. Am J Med Genet A. 2011;155A(8):1884–96. doi: 10.1002/ajmg.a.34090[published Online First: Epub Date]|.CrossRefPubMed

11.

Barkovich AJ, Kjos BO, Norman D, et al. Revised classification of posterior fossa cysts and cystlike malformations based on the results of multiplanar MR imaging. AJR Am J Roentgenol. 1989;153(6):1289–300. doi: 10.2214/ajr.153.6.1289[published Online First: Epub Date]|.CrossRefPubMed

12.

Goodyear PW, Bannister CM, Russell S, et al. Outcome in prenatally diagnosed fetal agenesis of the corpus callosum. Fetal Diagn Ther. 2001;16(3):139–45. doi: 53898[published Online First: Epub Date]|.CrossRefPubMed

13.

Santo S, D’Antonio F, Homfray T, et al. Counseling in fetal medicine: agenesis of the corpus callosum. Ultrasound Obstet Gynecol. 2012;40(5):513–21. doi: 10.1002/uog.12315[published Online First: Epub Date]|.CrossRefPubMed

14.

Ozyuncu O, Yazicioglu A, Turgal M. Antenatal diagnosis and outcome of agenesis of corpus callosum: A retrospective review of 33 cases. J Turk Ger Gynecol Assoc. 2014;15(1):18–21. doi: 10.5152/jtgga.2014.84666[published Online First: Epub Date]|.CrossRefPubMedPubMedCentral

15.

Barkovich AJ, Norman D. Anomalies of the corpus callosum: correlation with further anomalies of the brain. AJR Am J Roentgenol. 1988;151(1):171–9. doi: 10.2214/ajr.151.1.171[published Online First: Epub Date]|.CrossRefPubMed

16.

Richards LJ, Plachez C, Ren T. Mechanisms regulating the development of the corpus callosum and its agenesis in mouse and human. Clin Genet. 2004;66(4):276–89. doi: 10.1111/j.1399-0004.2004.00354.x[published Online First: Epub Date]|.CrossRefPubMed

17.

Bohlen MO, Bailoo JD, Jordan RL, et al. Hippocampal commissure defects in crosses of four inbred mouse strains with absent corpus callosum. Genes Brain Behav. 2012;11(7):757–66. doi: 10.1111/j.1601-183X.2012.00802.x[published Online First: Epub Date]|.CrossRefPubMedPubMedCentral

18.

Zolotushko J, Flusser H, Markus B, et al. The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter. Eur J Hum Genet. 2011;19(9):942–6. doi: 10.1038/ejhg.2011.74[published Online First: Epub Date]|.CrossRefPubMedPubMedCentral

Title: Morphometric variability of neuroimaging features in Children with Agenesis of the Corpus Callosum
Authors: Jason Bennett Neal
Christopher G. Filippi
Richard Mayeux
Publication date: 01-12-2015
Publisher: BioMed Central
Published in: BMC Neurology / Issue 1/2015
Electronic ISSN: 1471-2377
DOI: https://doi.org/10.1186/s12883-015-0382-5

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Morphometric variability of neuroimaging features in Children with Agenesis of the Corpus Callosum

Abstract

Background

Methods

Results

Conclusions

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

Please log in to get access to this content

Other articles of this Issue 1/2015

Singapore Tele-technology Aided Rehabilitation in Stroke (STARS) trial: protocol of a randomized clinical trial on tele-rehabilitation for stroke patients

Trust behavior in Parkinson’s disease: results of a trust game experiment

Polyuria and cerebral vasospasm after aneurysmal subarachnoid hemorrhage

Making SENSE - Sustained Effort Network for treatment of Status Epilepticus as a multicenter prospective registry

Multiple intracranial arterial stenosis influences the long-term prognosis of symptomatic middle cerebral artery occlusion

Feasibility of up-regulating CD4+CD25+ Tregs by IFN-γ in myasthenia gravis patients