Clinical and imaging features of cortical malformations in childhood

Objective: To determine the types, relative frequencies, clinical features, and MRI characteristics of malformations of cortical development (MCD) occ urring in a cohort of children referred to a tertiary pediatric center. Met hods: Original MR images were reviewed by two investigators, who were blind ed to clinical details, to determine the elemental imaging features of each malformation and to label these malformations according to an existing sys tem of classification. Clinical information was collected by a review of ho spital records. Results. A total of 109 children with MCD were identified. There were 58 boys and 51 girls, age 8 days to 18 years at initial imaging (mean age, 5 years). Seizures were present in 75%, developmental delay or i ntellectual disability in 68%, abnormal neurologic findings in 48%, and con genital anomalies apart from the CNS malformation in 18%. The main malforma tions identified were heterotopic gray matter (19%), cortical tubers (17%), focal cortical dysplasia (16%), polymicrogyria (16%), agyria/pachygyria (1 5%), schizencephaly/cleft (5%), transmantle dysplasia (5%), and hemimegalen cephaly (4%). Eight patients had features of more than one malformation. Mo st lesions were multilobar (47%), with the frontal lobe being the most comm on lobe involved (78%). A total of 68% of patients had other cerebral malfo rmations including ventricular dilatation or dysmorphism (46%) and abnormal ities of the corpus callosum (29%). Conclusions: This study illustrates the spectrum of MCD in a pediatric cohort and highlights some of the differenc es between pediatric and adult patients. Patients with MCD presenting in ch ildhood have a wider spectrum of malformations and more varied, often more severe, clinical manifestations. The lesions are frequently multifocal or g eneralized and many are associated with noncortical developmental brain ano malies.