AGENESIS OF CORPUS CALLOSUM – CLINICS AND GENETICS

Objectives: The corpus callosum is the major connection between the two cerebral hemispheres. Hypoplasis or agenesis of corpus callosum (ACC) can be an isolated malformation of the central nervous system (CNS), may be associated with other CNS malformations or abnormalities of other organs. In present work the clinical signs and symptoms in an isolated ACC and in ACC with accompanying other cerebral malformations were analysed.

Methods: Thirty children aged 4 months –15 years with ACC treated in clinics of the Medical University of Gdañsk in Poland during the last three years were analysed. Agenesis of corpus callosum was diagnosed by USG and was confirmed by CT and/or MRI.

Results: In 13 children (43%) ACC was an isolated CNS malformation; in 17 patients (57%) other CNS abnormalities have been established. In 77% of children ACC coexisted with the lesions of other organs including heart and sight malformations, the lesions of osteoarticular system, urogenital system and gastrointestinal system. The Apert syndrome, the Toriello-Carey syndrome and in one case the VATER sequence were diagnosed. In two females clinical signs were typical of Aicardi syndrome. In one case of newborn congenital cytomegalovirus infection has been established. In one infant the ring chromosome, in another the microdeletion of chromosome 22 were diagnosed.

Conclusion: ACC with accompanying other cerebral malformations present more severe clinical manifestation. – Estimation of ACC is particulary important for wider diagnostics of the CNS and also for providing examinations of other organs.