Agenesis of Corpus Callosum: Clinical Description and Etiology

Abstract

In 135 children (aged 3 months to 15 years) with structural defects of the central nervous system found on magnetic resonance imaging, agenesis of the corpus callosum was evident in 7. The etiology of agenesis of the corpus callosum has been established in four children: partial trisomy of chromosome 13, partial duplication of the long arm of chromosome 10, Aicardi's syndrome, and intracranial bleeding during the fetal period as a result of injury. Agenesis of the corpus callosum coexisted with a Dandy-Walker malformation in one other patient, which suggests a genetic etiology. In spite of these variable etiologies, dysmorphic features were identified in all seven patients, as was psychomotor retardation. Epileptic seizures had occurred in six patients, and all manifested abnormalities on neurologic examination.

Corpus callosum aplasia in a young patient with a parathyroid adenoma

“…Clinical symptoms include retardation (50-82%) seizures (43%) cerebral palsy (31%), hyper-or hypotonia, pyramidal symptoms and ocular and orofacial abnormalities, while in some cases it can be totally asymptomatic. [10][11][12] The incidence of this malformation is 2-3% in the developmentally disabled population, in contrast to 0.1-0.3% in unselected hospital populations and there is a slight predominance in the male gender. 12 Cytogenic abnormalities, metabolic disorders, genetic syndromes and associated cerebral dysgenesis constitute the four main causes of CC aplasia.…”

Prenatal diagnosis of a partial trisomy 13q (q14→qter): phenotype, cytogenetics and molecular characterization by spectral karyotyping and array comparative genomic hybridization

“…In relation to the structural defects in the central nervous system and the association with partial trisomy 13, three fetuses with enlarged magna cisterna (Nyberg et al, 1991) and one child with corpus callosum agenesis (Marszal et al, 2000) have been published, indicating a possible phenotype-genotype association. Applying a 244-k oligonucleotide-based aCGH, candidate chromosomal regions associated with the Dandy-Walker malformation and agenesis of the corpus callosum were recently delineated as deletions in the 13q32.2-q33.1 and 13q32.3-q33.1, respectively (Kirchhoff et al, 2009).…”

Brain Commissural Anomalies

“…The agenesis (complete or partial) is one of the most commonly observed features in the malformations of the brain (Chiappedi & Bejor, 2010), a part of many syndromes (Chiappedi & Bejor, 2010;Penny, 2006) and/or somatic anomalies (Barkovich, 2005;Barkovich & Norman, 1988;Marszal et al, 2000;Hetts, 2006). Primary complete agenesis usually occurs earlier in embryologic development, while partial agenesis occurs in later gestation (Penny, 2006).…”

“…Callosal dysgenesis is frequently associated with other central nervous system malformations and /or somatic anomalies (Barkovich & Norman, 1988;Marszal et al, 2000;Hetts et al, 2006) and its defects are rarely isolated (Barkovich & Norman, 1988;Hetts et al, 2006). Since formation of the corpus callosum is complex and this characteristic may explain why most cases of callosal agenesis are not isolated (Tang et al, 2009).…”