Last modified: 2014-04-03
Abstract
Introduction: Malformation of cortical development (MCD) include wide range of neurodevelopmental disorders . Aim of work : to present the clinical spectrum of MCD in relation their identified types ,EEG & neuroimaging data. Subject & methods: forty five case with MRI findings of MCD, aged from 14 days -4 years ,were subjected to clinical evaluation ,EMG & NC, ABR , echocardiography ,abdominal US,karyotyping,TORCH screening, TMS/MS, lactate level (7 cases each) , urine GAG and CPK( one case each)
Results: lissencephaly / pacchygyria spectrum compised 57.8% of cases schizencephaly (17.8%), polymicrogyria (13.3%) ,tuberous sclerosis (TSC) (6.7%), hemimegalencephaly & holoprosencephaly (2.2% each). Microcephaly was present in (77.7%),seizures occurred in (24.4%) :infantile spasm 2 cases (4.4%), multiple seizure types 7 cases (15.5%), myoclonic seizures (4.4%) and they were refractory in 7 cases .Suggested etiologies were ;TSC in 3 cases(6.7%), Klipple Trenauny , muscle eye brain disease (MEBD) ,CMV infection and prenatal insult one case each
Conclusion : MCD should be considered among patients with developmental delay, microcephaly and seizures .Lissencephaly was the commonest followed by schizencephaly Microcephly & refractory seizures were more significant among cases with lissencephaly /pacchygyria compared to other types of MCD. Aetiolgical diagnosis such as TSC ,MEBD, TORCH infection are important for management. Molecular diagnosis of MCD is necessary , hence prenatal diagnosis
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References
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