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Malformations of Cortical Development, Cognitive Involvementand Epilepsy: A Single Institution Experience in 19 Young
Valeria Venti1, Maria Chiara Consentino2, Pierluigi Smilari1
1Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Via S. Sofia 78, 95123 Catania, Italy.
Insights
Malformations of cortical development (MCD) are congenital disorders causing cognitive dysfunction and epilepsy. This study details clinical features, cognitive involvement, and epilepsy in 19 young MCD patients, highlighting varied responses to antiseizure medications.
Area of Science:
- Neurology
- Developmental Biology
- Pediatrics
Background:
- Malformations of cortical development (MCD) encompass a spectrum of congenital brain disorders.
- These conditions frequently lead to significant cognitive impairment and epilepsy in affected individuals.
Purpose of the Study:
- To characterize the clinical presentations of young patients with MCD.
- To analyze cognitive involvement, seizure types, and response to antiseizure medications.
- To investigate comorbidities in pediatric patients with MCD.
Main Methods:
- Retrospective review of medical records and MRI scans for 19 pediatric patients diagnosed with MCD.
- Patients were classified into three groups based on the Barcovich et al. 2012 classification.
- Analysis of clinical features, cognitive status, seizure characteristics, and treatment response.
Main Results:
- Group I (cortical dysplasia/tumors): Varied developmental delay/intellectual disability (DD/ID); focal to bilateral tonic-clonic seizures (FBTCs) with one drug-resistant case.
- Group II (heterotopias/pachygyria-lissencephaly): High prevalence of severe DD/ID; diverse seizure types (focal, FBTCs, infantile spasms) with three drug-resistant cases.
- Group III (polymicrogyria/schizencephaly): Predominantly severe DD/ID; focal seizures and FBTCs with three drug-resistant cases.
Conclusions:
- MCD presents with diverse neuroimaging findings, cognitive deficits, and epilepsy syndromes.
- Epilepsy in MCD patients often exhibits drug resistance, necessitating tailored treatment strategies.
- Comprehensive clinical and neuroimaging evaluation is crucial for managing pediatric MCD cases.
Background:
Malformations of cortical development (MCD) include a wide range of congenital disorders mostly causing severe cognitive dysfunction and epilepsy.
Objective:
to report on clinical features including cognitive involvement, epileptic seizures with response to antiseizure medications, comorbidities in young patients affected by MCD and followed in a single tertiary hospital.
Patients And Methods:
A retrospective review of the medical records and magnetic resonance images (MRI) of 19 young patients with an age ranging between eight days and fifteen years affected by MCD and admitted to Pediatrics Department University of Catania, Italy from October 2009 and October 2020 were selected. Patients were distinguished in three groups following the Barcovich et al. 2012 classification for MCD: 4 (21%) in Group I; 8 (42%) in Group II; and, and 7 (37%) in Group III. Clinical features and MRI of the patients including cognitive involvement, epilepsy type and response to drugs treatment were analyzed.
Results:
In Group I, two patients showed cortical dysplasia and two dysembryoplastic neuroepithelial tumors plus focal cortical dysplasia; developmental delay/intellectual disability (DD/ID) was severe in one, moderate in one and absent in two; the type of seizures was in all the cases focal to bilateral tonic-clonic (FBTCs), and drug resistant was found in one case. In Group II, three patients showed neuronal hetero-topias and five had pachygyria-lissencephaly: DD/ID was severe in four, moderate in two, and absent in two; the type of seizure was focal (FS) in five, focal to bilateral tonic-clonic (FBTCs) in two, infantile spasms (IS) in one, and drug resistant was found in three. In Group III, six showed polymicrogyria and one schizencephaly: DD/ID was found severe in five, moderate in two, and the type of seizure was focal (FS) in five, FBTCS in two, and drug resistance was found in three.
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