Publication at Central Library of Charles University, Second Faculty of Medicine, Third Faculty of Medicine |
2020
Abstract
Schizencephaly is a rare congenital developmental defect of the central nervous system. It is manifested by a combination of motor deficit, mental retardation and epilepsy.
The resulting clinical picture is extremely variable and difficult to predict despite highly accurate neoroimaging. Significant discrepancy between severe morphological disability and absence of expected symptoms is also described in the case report of our patient.
Bilateral schizencephaly was diagnosed in a extremely premature newborn in the intensive care unit. It describes the subsequent development of the defect, associated anomalies (septo-optic dysplasia) and the clinical condition of the patient up to one year of corrected age.