Hemispherectomy in Familial Focal Epilepsy? A Case Report of a Pharmacoresistant Epilepsy with Malformation of Cortical Development

Background/Purpose: Neuronal migration disorders may cause severe pharmacoresistant epilepsy in early infancy. Molecular genetic changes such as microdeletions are possible etiologies. Neurosurgery has to be considered early especially in isolated unilateral involvement.

Case Report: We report a case of a female newborn presenting high-frequent tonic seizures. Malformation of cortical development could be seen in the MRI concerning the left frontal lobe, partly as polymicrogyria extending up to the parietal region. EEG showed an isolated left localized burst suppression pattern as a sign of severe malfunction of the left hemisphere. B6, PB, PHT, LEV, STM, TPM, OXC, VGB, and steroids had no effect in controlling seizures; VGB and TPM showed at least a reduction of seizure frequency. The mother of the patient is suffering from frontal lobe epilepsy since the age of 18. Genetics of patient and her mother showed a micro-duplication 17q12 in both. An association with developmental delay and epileptic seizures is described in the literature. Furthermore change in DEPDC5-gene (c.1474C > T;p.R492X) was detected in both. Those mutations are found in patients with familial focal epilepsy with variable foci. In some of these patients focal cortical dysplasia type IIa was detected.

Results: Left hemispherectomy at the age of 5 months was performed. Histological analysis showed a focal cortical dysplasia type IIa. Single tonic seizures and infantile spasm have been registered during the postoperative process. During the follow up developmental progress has been observed and one year after surgery even with reduction of AED the child is seizure free.

Conclusion: A genetic analysis indicating familial epilepsy is no contraindication for neurosurgical treatment in case of distinct MRI and congruent clinical and EEG findings.