Abstracts

Patients with malformations of cortical development (MCD) present with a wide spectrum of clinical manifestations ranging from asymptomatic cases to those with epilepsy and developmental problems. Advanced neuroimaging studies have been helpful in better defining MCD. We evaluated the clinical, EEG and neuroimaging features in patients with MCD. We studied101 patients with MCD between 01.01.2002-01.11.2004 at Hacettepe University Children[rsquo]s Hospital Department of Pediatric Neurology. All patients underwent neurological evaluation with detailed medical and family history, and neuropsychological evaluation. Routine EEG, and MRI were obtained. Age at the time of evaluation ranged between 1 month and 19 years of age (mean: 6.1[plusmn] 4.4 years). Mean age at the time of the diagnosis was 4.3[plusmn]4.0 years. Fifty-four patients were diagnosed with polymicrogyria (PMG), 23 with lissencephaly, 12 with schizencephaly, and 12 with heterotopia. Parents were relatives in 31.7% of the cases; consanguinity was most common in lissencephaly, and in MCDs with diffuse/bilateral involvement. Initial clinical presentation was seizures (61.4%), developmental delays (12.9%), and microcephaly (9.9%). Neurological evaluation revealed most severe abnormalities in patients with lissencephaly, and relatively better outcome in patients with heterotopias. 71.3% of patients had epilepsy; overall 32.7% of patients had generalized seizures, 25.7% had complex partial seizures, and 11% had secondarily generalized seizures. Mean age at the onset of seizures was 2.7[plusmn]3.4 years. The onset of epilepsy tended to be younger in patients with lissencephaly, and older in patients with heterotopias. Patients with heterotopias and PMG achieved better seizure control in comparison with other groups. 79.2% of the cases had abnormal EEG (56.3% epileptiform abnormality, 22.9% non-epileptiform abnormalities such as background slowing, focal features and asymmetry). 49.9% of the cases without epilepsy had an abnormal EEG. Mental retardation was seen in 68% of the cases, and was most severe in patients with lissencephaly. Patients with heterotopias were better compared to other groups with respect to cognitive functions. Initial presentation and clinical course of patients with MCD is variable and seems to be correlated with the extent of cortical involvement. Epilepsy and mental retardation are most common problems. Most severe clinical outcome was seen in patients with lissencepahly. Better clinical delineation of patients with MCD may guide genotype-phenotype correlation studies. (Supported by Acknowledgements: Dr. Dilek Yalnizoglu is supported by NIMH ICORTHA Fogarty International Mental Health and Developmental Disabilities (MH/DD)Research Training Program (D43TW05807) at Children[apos]s Hospital Boston, PI: Kerim Munir, MD, MPH, DSc.)