Agenezja ciała modzelowatego – aspekt kliniczny i genetyczny
Thirty children aged 4 months – 15 years with agenesis of corpus callosum (ACC) treated in clinics of Medical University of Gdańsk during the last three years were included in the study. The clinical signs and symptoms in an isolated ACC and in ACC with accompanying other cerebral malformations were analysed. In 13 children (43%) ACC was an isolated CNS malformation, in 17 patients (57%) other CNS abnormalities have been established. In some of children ACC coexisted with the lesions of other organs. In one girl Apert syndrome, in one boy – Toriello-Carey syndrome, in another boy the VATER sequence were diagnosed. In three females clinical signs were typical of Aicardi syndrome. In one case of newborn congenital cytomegalovirus infection has been established. In one male infant the ring chromosome, in another child the microdeletion of chromosome 22 were diagnosed.
Estimation of ACC is particulary important for wider diagnostics of the CNS and also for providing examinations of other organs. Estimation of coexisting with ACC brain abnormalities is connected with more severe clinical features.
Adres: dr med. Małgorzata Lemka
Klinika Neurologii Rozwojowej AMG
80-952 Gdańsk, ul. Dębinki 7
tel.: (058) 349-23-90, fax: (058) 349-23-95