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Abstract
Objective: We sought to create a classification system for pediatric corpus callosal abnormalities (CCA) based upon midline sagittal brain MRI. We used the term CCA for patients with structural variants of the corpus callosum, excluding patients with interhemispheric cyst variant or pure dysplasia without hypoplasia. Currently, no system exists for nonsyndromic forms of CCA, and attempts to create such a system have been hampered by highly variable morphology in patients with sporadic CCA. We reasoned that any useful strategy should classify affected family members within the same type, and that phenotypic variability should be minimized in patients with recessive disease.
Methods: We focused recruitment toward multiplex consanguineous families, ascertained 30 patients from 19 consanguineous families, and analyzed clinical features together with brain imaging.
Results: We identified 3 major CCA classes, including hypoplasia, hypoplasia with dysplasia, and complete agenesis. Affected individuals within a given multiplex family usually displayed the same variant of the class of abnormality and they always displayed the same class of abnormality within each family, or they displayed complete agenesis. The system was validated among a second cohort of 10 sporadic patients with CCA.
Conclusions: The data suggest that complete agenesis may be a common end-phenotype, and implicate multiple overlapping pathways in the etiology of CCA.
Footnotes
Study funding: Supported by the NIH (K24 NS057382 and R01 NS NS48452 to J.G.G.).
Supplemental data at www.neurology.org
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- AC
- anterior commissure
- ACC
- agenesis of the corpus callosum
- CC
- corpus callosum
- CCA
- corpus callosal abnormalities
- GW
- weeks gestation
- PB
- Probst bundle
- UAE
- United Arab Emirates
- Received August 4, 2009.
- Accepted September 28, 2010.
- Copyright © 2011 by AAN Enterprises, Inc.
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