Clinical Features, EEG Findings and Outcome in Patients with Bilateral Periventricular Nodular Heterotopia and Epilepsy

Aim: To review the clinical, electrophysiological and neuroimaging data of eight adult patients (4F/4M) with epilepsy and bilateral periventricular nodular heterotopia (PNH) after a long duration of follow-up. Materials and Methods: The clinical charts were reviewed for demographic and clinical features, seizure types and frequency, treatment and prognosis of all eight patients who were under follow-up by one of the authors (SS). The recordings of video-EEG monitoring with scalp electrodes in five patients and routine EEGs in all patients were reviewed. Results: The clinical semiology was in accord with seizures originating from temporal lobe region in four patients, while an extratemporal onset was assumed in the others (in one with additional temporal seizures). Interictal EEGs were normal in one patient, who was diagnosed as having psychogenic nonepileptic seizure. Abnormalities seen in interictal EEGs were bilateral independent temporal focus in three, unilateral epileptiform abnormalities in two, and generalized 3 cyc/sec discharges mimicking idiopathic generalized epilepsies in two patients. Only two patients´ MRI revealed bilaterally contiguous heterotopic nodules (symmetric and asymmetric type) and, interestingly, these two patients did not have intractable seizures while the other six patients with bilateral, asymmetric and noncontiguous heterotopic nodules suffered from intractable seizures. Conclusions: Patients with bilateral PNH have different clinical features, EEG findings and extension of the heterotopic nodules. These patients may be misdiagnosed as having idiopathic generalized epilepsy, temporal lobe epilepsy or even psychogenic nonepileptic seizures without high quality MRI because of the misleading seizure semiology and interictal-ictal EEG findings. Seizures are usually drug-resistant but the patients who have diffuse symmetric or asymmetric contiguous heterotopic nodules may have good prognosis.

Clinical Features, EEG Findings and Outcome in Patients with Bilateral Periventricular Nodular Heterotopia and Epilepsy

Aim: To review the clinical, electrophysiological and neuroimaging data of eight adult patients (4F/4M) with epilepsy and bilateral periventricular nodular heterotopia (PNH) after a long duration of follow-up. Materials and Methods: The clinical charts were reviewed for demographic and clinical features, seizure types and frequency, treatment and prognosis of all eight patients who were under follow-up by one of the authors (SS). The recordings of video-EEG monitoring with scalp electrodes in five patients and routine EEGs in all patients were reviewed. Results: The clinical semiology was in accord with seizures originating from temporal lobe region in four patients, while an extratemporal onset was assumed in the others (in one with additional temporal seizures). Interictal EEGs were normal in one patient, who was diagnosed as having psychogenic nonepileptic seizure. Abnormalities seen in interictal EEGs were bilateral independent temporal focus in three, unilateral epileptiform abnormalities in two, and generalized 3 cyc/sec discharges mimicking idiopathic generalized epilepsies in two patients. Only two patients´ MRI revealed bilaterally contiguous heterotopic nodules (symmetric and asymmetric type) and, interestingly, these two patients did not have intractable seizures while the other six patients with bilateral, asymmetric and noncontiguous heterotopic nodules suffered from intractable seizures. Conclusions: Patients with bilateral PNH have different clinical features, EEG findings and extension of the heterotopic nodules. These patients may be misdiagnosed as having idiopathic generalized epilepsy, temporal lobe epilepsy or even psychogenic nonepileptic seizures without high quality MRI because of the misleading seizure semiology and interictal-ictal EEG findings. Seizures are usually drug-resistant but the patients who have diffuse symmetric or asymmetric contiguous heterotopic nodules may have good prognosis.

___

  • 1. Pearlman AL, Faust PL, Hatten ME, Brunstrom JE. New directions for neuronal migration. Curr Opin Neurobiol 1998; 8(1): 845- 854.
  • 2. Fox JW, Walsh CA. Periventricular heterotopia and the genetics of neuronal migration in the cerebral cortex. Am J Hum Genet 1999; 65: 19-24.
  • 3. Pilz D, Stoodley N, Golden JA. Neuronal migration, cerebral cortical development, and cerebral cortical anomalies. J Neuropathol Exp Neurol 2002; 61(1): 1-11.
  • 4. Guerrini R. Genetic malformations of the cerebral cortex and epilepsy. Epilepsia 2005; 46 (suppl 1): 32-37.
  • 5. Huttenlocher PR, Taravath S, Mojtahedi S. Periventricular heterotopia and epilepsy. Neurology 1994; 44(1): 51-55.
  • 6. Eksioglu YZ, Scheffer IE, Cardenas P, Knoll, J, DiMario F, Ramsby G et al. Periventricular heterotopia: an X linked dominant epilepsy locus causing aberrant cerebral cortical development. Neuron 1996; 16: 77-87.
  • 7. Fink JM, Dobyns WB, Guerrini R, Hirsch BA. Identification of Xq28 associated with bilateral periventricular nodular heterotopia. Am J Hum Genet 1997; 61: 379-387.
  • 8. Sisodiya SM, Free SL, Thom M, Everitt AE, Fish DR, Shorvon SD. Evidence for nodular epileptogenicity and gender differences in periventricular nodular heterotopia. Neurology 1999; 52: 336- 341.
  • 9. Sheen VL, Topcu M, Berkovic S, Yalnizoglu D, Blatt I, Bodell A et al. Autosomal recessive form of periventricular heterotopia. Neurology 2003; 60(7): 1108-1112.
  • 10. Battaglia G, Granata T, Farina L, D'Incerti L, Franceschetti S, Avanzini G. Periventricular nodular heterotopia: epileptogenic findings. Epilepsia 1997; 38(11): 1173-1182.
  • 11. Barkovich AJ. Magnetic resonance imaging: role in the understanding of cerebral malformations. Brain Dev 2002; 24: 2–12.
  • 12. Barkovich AJ, Kuzniecky RI, Jackson GD, Gueprini R, Dobyns WB. Classification system for malformations of cortical development. Neurology 2001; 57: 2168–2178.
  • 13. Barkovich AJ, Kjos BO. Gray matter heterotopias: MR characteristics and correlation with developmental and neurologic manifestations. Radiology 1992; 182: 493-499.
  • 14. D’Orsi G, Tinuper P, Bisulli F, Zaniboni A, Bernardi B, Rubboli G et al. Clinical features and long term outcome of epilepsy in periventricular nodular heterotopia. Simple compared with plus forms. J Neurol Neurosurg Psychiatry 2004; 75: 873-878.
  • 15. Chang BS, Ly J, Appignani B, Bodell A, Apse KA, Ravenscroft RS et al. Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. Neurology 2005; 64(5): 799-803.
  • 16. Battaglia G, Chiapparini L, Franceschetti S, Freri E, Tassi L, Bassanini S et al. Periventricular nodular heterotopia: classification, epileptic history, and genesis of epileptic discharges. Epilepsia 2006; 47(1): 86-97.
  • 17. Dubeau F, Tampieri D, Lee N, Andermann E, Carpenter S, Leblanc R et al. Periventricular and subcortical nodular heterotopia. A study of 33 patients. Brain 1995; 118: 1273-1287.
  • 18. Raymond AA, Fish DR, Stevens JM, Sisodiya SM, Alsanjari N, Shorvon SD. Subependymal heterotopia: a distinct neuronal migration disorder associated with epilepsy. J Neurol Neurosurg Psychiatry 1994; 57: 1195-1202.
  • 19. Kothare SV, VanLandingham K, Armon C, Luther JS, Friedman A, Radtke RA. Seizure onset from periventricular nodular heterotopias: depth-electrode study. Neurology 1998; 51(6): 1723-1727.
  • 20. Hannan AJ, Servotte S, Katsnelson A, Sisodiya S, Blakemore C, Squier M et al. Characterization of nodular heterotopia in children. Brain 1999; 22: 219-238.
  • 21. Tassi L, Colombo N, Cossu M, Mai R, Francione S, Russo GL et al. Electroclinical, MRI and neuropathological study of 10 patients with nodular heterotopia, with surgical outcomes. Brain 2005; 128: 321-337.
  • 22. Aghakhani Y, Kinay D, Gotman J, Soualmi L, Andermann F, Oliver A et al. The role of periventricular nodular heterotopia in epileptogenesis. Brain 2005; 128: 641-651.
  • 23. Jakobs KM, Kharazia VN, Prince DA. Mechanisms underlying epileptogenesis in cortical malformations. Epilepsy Res 1999; 36(2-3): 165-188.
  • 24. Li LM, Dubeau F, Andermann F, Fish DR, Watson C, Cascino GD et al. Periventricular nodular heterotopia and intractable temporal lobe epilepsy: poor outcome after temporal lobe resection. Ann Neurol 1997; 41: 662-668.
Turkish Journal of Medical Sciences-Cover
  • ISSN: 1300-0144
  • Yayın Aralığı: Yılda 6 Sayı
  • Yayıncı: TÜBİTAK