Diffuse hemispheric dysembryoplastic neuroepithelial tumor: a new radiological variant associated with early-onset severe epilepsy

Abstract

The authors describe the clinical and radiological features in 3 children with a diffuse hemispheric dysembryoplastic neuroepithelial tumor (DNET) presenting with severe epilepsy and a previously unreported and characteristic MR imaging appearance. The DNET is a well-recognized cause of focal epilepsy, usually with a very good response to resection. These tumors are usually intracortical, and most commonly arise in the temporal lobe or frontal lobes. Radiologically they are usually sharply demarcated, and show little contrast enhancement. Three children (2 boys and 1 girl) presented at 14, 17, and 22 months of age with epileptic seizures. The seizures were focal motor or complex focal. One patient had epileptic spasms. The response to antiepileptic drug therapy was poor. Motor and cognitive development was delayed in all patients. One patient developed a severe epileptic encephalopathy, with regression of motor and cognitive skills. Her electroencephalogram obtained at that time showed hypsarhythmia. Admission MR imaging showed a diffuse unilateral abnormality involving frontal, temporal, and parietal lobes with little or no mass effect. There was involvement of both gray and white matter, with a striking sparing of the internal capsule in spite of apparent tumor throughout the basal ganglia and thalamus. In 2 patients there was prominent expansion of cortical gyri by tumor. In 1 child the initial radiological diagnosis was a middle cerebral artery infarct. On subsequent review the radiological diagnosis was thought to be low-grade glioma in all patients. The first patient underwent 2 limited resections involving the temporal lobe. He has continued to have poorly controlled seizures and severe behavioral and cognitive problems. The other patients had subtotal resection to the level of the internal capsule. One patient is currently seizure free 24 months postsurgery, but remains cognitively impaired. The patient in Case 3 is having some seizures 3.5 years postsurgery and remains hemiplegic, but the regression has reversed and she is making steady developmental progress. The pathological specimens showed the typical features of a DNET in all cases. This striking radiological pattern has not previously been described as a feature of a DNET. Recognition of this radiological pattern in young children with epilepsy will allow early consideration for resection, which may lead to improved long-term cognitive outcome.