ICNC2018 Abstracts & Symposia Proposals, ICNC 2014

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CLINICAL SPECTRUM AND NEUROIMAGING IN CHILDREN WITH MALFORMATIONS OF CORTICAL DEVELOPMENT
Lobna Abdelgawad Mansour

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

 

 


Keywords


seizures,tuberous sclerosis,lissencephaly,infantile spasm,microcephaly

References


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Cottier JP,Toutain A,Hommet C et al,(2006):Cortical malformations and epilepsy:role of MRI .J Radiol.87:1621-34

De Wit MC,Andel J Halley DJ ET AL (2011):Long term follow up type 1 lissencephaly: survival is related to neuroimaging abnormaiities.Developmental medicine and child neuroiogy.10:1469-8749

Prather P and De Varies PJ(2004); Behavioral cognitive spects of tuberous sclerosis complex.J child Neurol. 19: 666-674


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