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From the Departments of Neurology (Drs. Leventer and Harvey) and Radiology (Drs. Phelan, Coleman, and Kean), Royal Children’s Hospital, Melbourne; the Brain Imaging Research Institute Austin and Repatriation Medical Centre (Dr. Jackson), Melbourne; and the Departments of Pediatrics (Drs. Leventer and Harvey) and Medicine (Dr. Jackson), University of Melbourne, Australia.
Address correspondence and reprint requests to Dr. A. Simon Harvey, Department of Neurology, Royal Children’s Hospital, Flemington Road, Parkville, Victoria, 3052 Australia; e-mail: harveys{at}cryptic.rch.unimelb.edu.au
OBJECTIVE: To determine the types, relative frequencies, clinical features, and MRI characteristics of malformations of cortical development (MCD) occurring in a cohort of children referred to a tertiary pediatric center.
METHODS: Original MR images were reviewed by two investigators, who were blinded to clinical details, to determine the elemental imaging features of each malformation and to label these malformations according to an existing system of classification. Clinical information was collected by a review of hospital 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 intellectual disability in 68%, abnormal neurologic findings in 48%, and congenital anomalies apart from the CNS malformation in 18%. The main malformations identified were heterotopic gray matter (19%), cortical tubers (17%), focal cortical dysplasia (16%), polymicrogyria (16%), agyria/pachygyria (15%), schizencephaly/cleft (5%), transmantle dysplasia (5%), and hemimegalencephaly (4%). Eight patients had features of more than one malformation. Most lesions were multilobar (47%), with the frontal lobe being the most common lobe involved (78%). A total of 68% of patients had other cerebral malformations including ventricular dilatation or dysmorphism (46%) and abnormalities of the corpus callosum (29%).
CONCLUSIONS: This study illustrates the spectrum of MCD in a pediatric cohort and highlights some of the differences between pediatric and adult patients. Patients with MCD presenting in childhood have a wider spectrum of malformations and more varied, often more severe, clinical manifestations. The lesions are frequently multifocal or generalized and many are associated with noncortical developmental brain anomalies.
Key words: Cortical malformation—Cortical dysplasia—Epilepsy—MRI.
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