Clinical, neuroimaging and cytogenetic findings in 20 patients with corpus callosum dysgenesis

Abstract

-Twenty children with corpus callosum agenesis or hypoplasia were evaluated under a standardized investigation protocol. Psychomotor retardation, seizures, and craniofacial anomalies were the most prominent findings. There were three cases of chromosomal anomalies, all of them representing trisomy of chromosome 8.KEY WORDS: corpus callosum agenesis, chromosomal anomaly, trisomy 8.Achados clínicos, citogenéticos e de neuroimagem em 20 pacientes com disgenesia do corpo caloso Achados clínicos, citogenéticos e de neuroimagem em 20 pacientes com disgenesia do corpo caloso Achados clínicos, citogenéticos e de neuroimagem em 20 pacientes com disgenesia do corpo caloso Achados clínicos, citogenéticos e de neuroimagem em 20 pacientes com disgenesia do corpo caloso Achados clínicos, citogenéticos e de neuroimagem em 20 pacientes com disgenesia do corpo caloso RESUMO -Vinte pacientes com disgenesia do corpo caloso foram avaliados através de um protocolo padronizado. Retardo neuropsicomotor, convulsões e dismorfias faciais foram os achados mais proeminentes. Três casos de anomalia cromossômica foram observados, todos representados por trissomia do cromossomo 8.PALAVRAS-CHAVE: disgenesia do corpo caloso, anomalia cromossômica, trissomia 8.

Counseling in fetal medicine: agenesis of the corpus callosum

“…Over 3600 titles and abstracts were reviewed. The search strategy, keywords used and results are found in Appendix S1 and the studies used in this Review are summarized in Appendices S2–S4.…”

Agenesis of the corpus callosum: classifying functional manifestations with the ICF-CY

“…Children with agenesis of the corpus callosum have a highly variable clinical presentation. They may experience typical development, free from clinical impairment in any domain [2,9], or they may have severe impairment in multiple areas [10][11][12]. Common impairments include functional limitations of feeding, sleeping, motor development (specifically bimanual coordination), bilateral visual processing, attention, atypical sensory responses, phonological processing, understanding nonliteral language, interpreting social cues and comprehending emotions.…”

“…Common impairments include functional limitations of feeding, sleeping, motor development (specifically bimanual coordination), bilateral visual processing, attention, atypical sensory responses, phonological processing, understanding nonliteral language, interpreting social cues and comprehending emotions. Normal cognitive functioning in persons with ACC may be related to the absence of additional cerebral or neurological abnormalities such as seizures and hypoplasia [10,13,14] or syndromic disorders.…”

Fetal MRI:A Developing Technique for the Developing Patient

“…The prevalence of callosal agenesis in the general population is estimated to be 0.2-0.7%, rising to 3% in mentally disabled patients [55]. Most patients with callosal agenesis have neurodevelopmental disorders, including developmental delay, mental disability, and epilepsy [55][56][57][58]. At autopsy, 85% of adults with callosal agenesis have additional central nervous system anomalies, and 62% have anomalies outside the central nervous system [59].…”