Agenesis of the corpus callosum associated with hereditary syndromes

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Abstract: Agenesis of the corpus callosum (ACC) is detected in patients with cerebral dysgenesis associated with various hereditary syndromes. It is conventionally subdivided into total (the absence of commissural fibers) and partial (agenesis of the rostral and caudal areas of the corpus callosum) ACC. The disorder can either be individual or associated with other developmental brain malformations. Isolated pathologies of the corpus callosum can be clinically occult, thus significantly impeding diagnosis of this pathology. AAC can be verified using various neuroimaging data, including fetal brain ultrasonography. In this study, we report two cases of patients with ACC associated with hereditary syndromes from our own clinical experience. In one case, the course of the disease was relatively favorable. The severe infantile form with fatal outcome is reported in the second case. The detailed autopsy data and results of morphological examination of the brain are presented. Special attention is paid to the issues associated with analysis of clinical phenotypes, as well as lifetime and postmortem diagnosis of the disease.

About the authors

Olga A. Milovanova

Russian Medical Academy of Continuous Professional Education, Ministry of Healthcare of the Russian Federation; Tushino Children’s City Hospital

Author for correspondence.
Russian Federation, Moscow

Tat'yana Yu. Tarakanova

Russian Medical Academy of Continuous Professional Education, Ministry of Healthcare of the Russian Federation

Russian Federation, Moscow

Yuliya B. Pronicheva

Russian Medical Academy of Continuous Professional Education, Ministry of Healthcare of the Russian Federation

Russian Federation, Moscow

Lyubov' P. Katasonova

Tushino Children’s City Hospital

Russian Federation, Moscow

Salbakay Kx. Biche-Ool

Tushino Children’s City Hospital

Russian Federation, Moscow

Tat'yana E. Vorozhbieva

Tushino Children’s City Hospital

Russian Federation, Moscow


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Copyright (c) 2017 Milovanova O.A., Tarakanova T.Y., Pronicheva Y.B., Katasonova L.P., Biche-Ool S.K., Vorozhbieva T.E.

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