1. Midbrain–hindbrain malformations in patients with malformations of cortical development and epilepsy: A series of 220 patients
- Author
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Iris Unterberger, Laura Zamarian, Eugen Trinka, Gerhard Bauer, Giorgi Kuchukhidze, Margarete Delazer, Judith Dobesberger, Kevin Rostasy, Martin Ortler, Stephan Felber, Martha Feucht, Edda Haberlandt, Thomas Czech, Florian Koppelstaetter, Gerald Walser, and Julia Höfler
- Subjects
Male ,Pathology ,Neurology ,030218 nuclear medicine & medical imaging ,Cohort Studies ,Epilepsy ,0302 clinical medicine ,Mesencephalon ,Interquartile range ,Image Processing, Computer-Assisted ,Age of Onset ,Child ,10. No inequality ,Cortical dysplasia ,Seizure types ,Developmental disorders ,Middle Aged ,Magnetic Resonance Imaging ,3. Good health ,Malformations of Cortical Development ,Child, Preschool ,embryonic structures ,Female ,medicine.symptom ,Psychology ,MRI ,Adult ,medicine.medical_specialty ,animal structures ,Adolescent ,Clinical Neurology ,Status epilepticus ,Article ,Young Adult ,03 medical and health sciences ,Dysgenesis ,Internal medicine ,medicine ,Humans ,medicine.disease ,Rhombencephalon ,Logistic Models ,nervous system ,Neurology (clinical) ,Midbrain–hindbrain ,Age of onset ,030217 neurology & neurosurgery - Abstract
Highlights • We assessed midbrain–hindbrain in a large series of cortical malformation patients. • Midbrain–hindbrain malformations are commonly linked to cortical malformations. • Midbrain–hindbrain malformations are associated with severe clinical phenotype., Summary Midbrain–hindbrain malformations (MHM) may coexist with malformations of cortical development (MCD). This study represents a first attempt to investigate the spectrum of MHM in a large series of patients with MCD and epilepsy. We aimed to explore specific associations between MCD and MHM and to compare two groups of patients: MCD with MHM (wMHM) and MCD without MHM (w/oMHM) with regard to clinical and imaging features. Two hundred and twenty patients (116 women/104 men, median age 28 years, interquartile range 20–44 years at the time of assessment) with MCD and epilepsy were identified at the Departments of Neurology and Pediatrics, Innsbruck Medical University, Austria. All underwent high-resolution MRIs (1.5-T) between 01.01.2002 and 31.12.2011. Midbrain–hindbrain structures were visually assessed by three independent raters. MHM were seen in 17% (38/220) of patients. The rate of patients wMHM and w/oMHM differed significantly (p = 0.004) in three categories of MCD (category I – to abnormal neuronal proliferation; category II – to abnormal neuronal migration; and category III – due to abnormal neuronal late migration/organization): MCD due to abnormal neuronal migration (31%) and organization (23%) were more commonly associated with MHM compared to those with MCD due to abnormal neuronal proliferation (9%). Extensive bilateral MCD were seen more often in patients wMHM compared to those w/oMHM (63% vs. 36%; p = 0.004). In wMHM group compared to w/oMHM group there were higher rates of callosal dysgenesis (26% vs. 4%; p
- Published
- 2013