Background: Central nervous system (CNS) malformations represent an important factor of morbidity and mortality in children. Objective: The aim of this study is to study the clinical manifestations of various types of congenital CNS malformations (early and late onset cases) in relation to their neuroimaging findings. Methods: A prospective study which was carried out on patients attending the neuro- pediatric Unit, Children's Hospital Cairo University over a period of 3 months from October 2008 to January 2009. Patients suspected of having congenital CNS malformations were selected and further studied via neuroimaging (CT and MRI). Results: The frequency of congenital CNS malformations among the whole number of patients who had attended the clinic was 9.7/1000.Four groups were identified; Group1: Isolated dysgenesis of corpus callosum (DCC) in 7 cases (22%), Group2: Neural tube defects (NTD) in 12 cases (37.5%), Group3: Malformations of cortical development (MCD) in 9 cases (28%) and Group4: Neurocutaneous syndromes (NCS) in 4 cases (12.5%). Seizures were one of the most common encountered symptoms in the study group [19 cases (59%)]. Seventy nine percent of patients had their seizure onset before first year of life. Delayed motor milestones was seen in 10 patients (31%) mainly from NCS group, while 15 cases (45%) showed delayed both motor and mental milestones mainly belonging to MCD group. Conclusion: Congenital CNS malformations should be suspected in patients presenting with seizures, developmental delay, microcephaly, macrocephaly, or dysmorphic features especially during first year of life. Definite diagnosis depends on both relevant history and clinical data integrated with specific MRI findings. (Egypt J Neurol Psychiat Neurosurg. 2010; 47(2): 275-280)
Key Words: Congenital CNS malformations, Anencephaly, Lissencephaly.
Correspondence to Marian Y. Girgis, Pediatric Department, Cairo University, Egypt. Tel: +20125248831. Email: marianjohn72@yahoo.com