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    Malformations of cortical development
    (2007) Güngör S.; Yalnizo?lu D.; Topçu M.
    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. Clinical presentation of MCD is variable and depends on the affected cortical area. While severe malformations can be recognized with definite developmental retardation and early-onset recurrent seizures, mild malformations are usually identified at any age, mostly during evaluation following a seizure. With the help of high resolution neuroradiological imaging techniques, there has been an increase in the number of cortical developmental lesions. The etiology in many MCDs is unknown. It is possibly a general response of the developing brain to genetic and environmental factors. Alterations during neuronal proliferation, migration and organization stages of the developing brain constitute the basis of these malformations. During the developmental stages, intervening genetic and prenatal environmental factors may contribute to the development of malformations. Nevertheless, in the majority of cases the cause is unknown.
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    Malformations of cortical development and epilepsy: Evaluation of 101 cases (Part II)
    (2007) Güngör S.; Yalnizo?lu D.; Turanli G.; Saatçi I.; Erdo?an-Bakar E.; Topçu M.
    Malformations of cortical development (MCD) form a spectrum of lesions produced by insult to the developing neocortex. Clinical presentation and electrophysiologic findings of MCD are variable and depend on the affected cortical area. We evaluated epilepsy, EEG, and response to antiepileptic treatment in patients with MCD with respect to the neuroimaging findings. We studied 101 patients, ranging between 1 month and 19 years of age. Fifty-four patients were diagnosed with polymicrogyria (PMG), 23 patients with lissencephaly, 12 patients with schizencephaly, and 12 patients with heterotopia. With regards to epilepsy and seizure type, 72/10l (71.3%) patients had epilepsy, and 62/ 101 (61.4%) patients presented with seizures. Overall, 32.7% of patients had generalized seizures, and 25.7% had complex partial seizures. Mean age at the onset of seizures was 2.7±3.4 years. The onset of epilepsy tended to be younger in patients with lissencephaly and older in patients with heterotopias. Of the cases, 79.2% had abnormal EEG (56.3% with epileptiform abnormality, 22.9% with non-epileptiform abnormality). EEG was abnormal in 44.9% (13/29) of the cases without epilepsy. EEG showed bilateral synchronous and difuse epileptiform discharges in 90% of patients with lissencephaly. Patients with schizencephaly had mostly focal epileptiform discharges. Heterotopia. cases had a high rate of EEG abnormalities (72.7%). Patients with PMG had epileptiform abnormality in 59.5% of the cases. Patients with heterotopias and PMG achieved better seizure control in comparison with the other groups. In conclusion, epilepsy is the most common problem in MCD. Epilepsy and EEG findings of patients with MOD are variable and seem to be correlated with the extent of cortical involvement.
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    Malformations of cortical development: Clinical spectrum in a series of 101 patients and review of the literature (Part I)
    (2007) Güngör S.; Yalnizo?lu D.; Turanli G.; Saatçi I.; Erdo?an-Bakar E.; Topçu M.
    Patients with malformations of cortical development (MCD) present with a wide spectrum of clinical manifestations ranging from asymptomatic cases to those with epilepsy and neurodevelopmental problems. Thorough clinical delineation of patients with MCD may provide dues for future phenotype-genotype correlation studies. We studied clinical features of patients with MCD, including developmental risk factors and family history. We evaluated 101 patients with MCD at Hacettepe University Children'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. The patients were between 1 month and 19 years of age (mean: 6.1 ± 4.4 years). Fifty-four patients were diagnosed with polymicrogyria (PMG), 23 patients with lissencephaly, 12 patients with schizencephaly, and 12 patients with heterotopia. Parents were relatives in 31.7% of the cases; consanguinity was most common in patients with lissencephaly and other MCDs with difluse/bilateral involvement. Initial clinical presentation was seizures in 61.4% of the cases, developmental delays in 12.9%, and microcephaly in 9.9%. Neurological evaluation revealed most severe abnormalities in patients with lissencephaly, and relatively better outcome in patients with heterotopias. Cognitive functions were better in patients with heterotopias compared to other groups. Overall, 71.3% of patients had epilepsy. In conclusion, initial presentation and clinical course of patients with MCD are variable and seem to be correlated with the extent of cortical involvement. Epilepsy and mental retardation are the most common problems. The most severe clinical outcome was seen in patients with lissencephaly.