Introduction: Developmental malformations OF CNS are a complex group of congenital malformations often presenting with variable neurodevelopment dysfunction and seizures. The etiology of most of these malformations is not well known but chromosomal anomalies, monogenic disorders, maternal radiation exposure, teratogenic drugs and intrauterine infections are some of the major causes. Congenital CNS malformations are frequently associated with seizures and mental retardation. With advancement of imaging techniques (higher tesla magnetic resonance imaging and more sophisticated computed tomographic machines) it has now become possible to diagnose these malformations with precision. Hence this study has been undertaken to know incidence of CNS malformations and its clinical presentation in childhood seizure disorders. 

Aims and Objectives

To study the incidence of CNS malformations and its clinical presentation in children with seizure disorder. 

Materials and Methods:  This was a prospective cohort study done on 102 diagnosed cases of seizure disorder conducted in department of pediatrics, Grant Govt. Medical College & Sir J J Group of Hospitals, Mumbai, India. Cohort included 102 diagnosed case of seizure disorder in children up to 14 years of age. Neuroimaging data of all patients were evaluated for a 2 year period from Nov. 2011 to Oct.2013 for presence of CNS malformations, and the clinical and electrophysiological data were analyzed. 

Results: Out of the studied cases 67 were males and 35 were females with a male to female ratio of 1: 0.52 . 28 (27.5%) cases of CNS malformations were reported on neuroimaging. The analysis of the CNS malformations revealed that out of the patients who were found to be having CNS malformation on either computed tomography or magnetic resonance imaging 12 (11.76%) were of Neural tube defects , 11(10.78%) were of Malformation of cortical development, 3 (2.94%) were of neurocutaneous syndrome, and 2(1.96%) were of dysgenesis  of corpus collasum. Developmental delay was present in 53.6% cases and in 83 % cases age of onset of seizures was within 2 years of age. Significant association was seen with dysmorphic features (p-value<0.001), neurocutaneous markers (p-value<0.028), other congenital anomalies (p-value<0.048), and GTC convulsions(p-value<0.048). Computed tomography and magnetic resonance imaging both were done in 16/28 (57.14%). While only CT and only MRI was done in 4 and 8 patients respectively

Conclusion: CNS malformations should be suspected in paediatric patients of seizure disorder presenting with developmental delay, dysmorphic features, neurocutaneous markers, other congenital anomalies, and early onset of seizures. MRI brain is superior to CT brain for diagnosis of CNS malformations. 

Key Words: Seizure in children, CNS malformations, Computed Tomography, Magnetic Resonance Imaging.