Neuropediatrics 2013; 44 - PS22_1046
DOI: 10.1055/s-0033-1337876

Coincidence of duplication in the PCDH 19 gene and focal cortical dysplasia

A Luebbig 1, T Pieper 1, D Kolodzieczyk 2, M Kudernatsch 2, I Bluemcke 3, E Holinksi-Feder 4, A Badinger 1, A Karlmeier 1, H Holthausen 1, M Staudt 1
  • 1Schoen Klinik Vogtareuth Neuropaediatrie, Vogtareuth, Germany
  • 2Schoen Klinik Vogtareuth Klinik für Neurochirurgie, Vogtareuth, Germany
  • 3Universiktätsklinikum Erlangen Neuropathologisches Institut, Erlangen, Germany
  • 4MGZ München, München, Germany

Aim: We report a girl suffering from a drug resistant focal epilepsy with febrile seizures/status epileptic who underwent a right temporo-parieto-resection after invasive work up at the age of 8 years.

Postoperatively two seizure series occurred (follow up: 9 years).

The postoperative diagnostics because of persisting seizures detected duplication in the PCDH 19 gene.

Results: Age at onset of epilepsy: 13 month; the girl showed auras with panic, visual and somato-sensible symptoms evolving into focal tonic-clonic seizure, accentuated to the left, occurring in series provoked by fever (6 times a year).

Already before surgery the girl showed a movement disorder characterized by ataxia and mild left-sided hemiparesis. There is a cognitive impairment with a FSIQ of 64 in 2012. Video-EEG -monitoring: slowing left temporo-occipital and right fronto-centro-parietal, rare spikes occurred bifrontally. The tonic and atonic seizures were accompanied by right parietal and right fronto-central seizure patterns.

MRI: mild focal cortical dysplasia right temporal, medial, and basal with a questionable extension to the temporal lateral parts.

A right temporo-parieto-occipital cortical resection including an amygdalo-hippocampectomy with electrocorticography was performed on October 28 2003.

Postoperative seizure outcome: two febrile seizure series (2004, 2008) and some isolated auras.

Neuropathology: Mild focal cortical dysplasia with a dyslamination of cortical neuronal layers and an increased number of ectopic neurons in the white matter.

DNA-sequencing: duplication of exons 3, 4, and 5a in the PCDH 19 gene and duplication 85 to 68 kb in front of that gene.

Conclusion: Beside standard diagnostic procedures (e.g., EEG and MRI) the evaluation of failure after epilepsy surgery should take into account current molecular genetic diagnostics if appropriate phenotypical characteristics are associated with the epilepsy.

The proof of a genetic epilepsy syndrome, which may have a focal phenotype, has impact on therapy and comprehensive care for the patient.