Malformations of cortical development: Clinical spectrum in a series of 101 patients and review of the literature (Part I)

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dc.authorscopusid7003442366
dc.authorscopusid6602372330
dc.authorscopusid6701629782
dc.authorscopusid7006598586
dc.authorscopusid15060953100
dc.authorscopusid7005934743
dc.contributor.authorGüngör S.
dc.contributor.authorYalnizo?lu D.
dc.contributor.authorTuranli G.
dc.contributor.authorSaatçi I.
dc.contributor.authorErdo?an-Bakar E.
dc.contributor.authorTopçu M.
dc.date.accessioned2024-08-04T19:59:13Z
dc.date.available2024-08-04T19:59:13Z
dc.date.issued2007
dc.departmentİnönü Üniversitesien_US
dc.description.abstractPatients 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.en_US
dc.description.sponsorshipFogarty International Center, FIC: D43TW005807en_US
dc.identifier.endpage130en_US
dc.identifier.issn0041-4301
dc.identifier.issue2en_US
dc.identifier.pmid17907510en_US
dc.identifier.scopus2-s2.0-34548141911en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage120en_US
dc.identifier.urihttps://hdl.handle.net/11616/90476
dc.identifier.volume49en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.relation.ispartofTurkish Journal of Pediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectClinical courseen_US
dc.subjectEpilepsyen_US
dc.subjectHeterotopiaen_US
dc.subjectLissencephalyen_US
dc.subjectMalformations of cortical developmenten_US
dc.subjectPolymicrogyriaen_US
dc.subjectSchizencephalyen_US
dc.titleMalformations of cortical development: Clinical spectrum in a series of 101 patients and review of the literature (Part I)en_US
dc.typeReview Articleen_US

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