Turner syndrome (TS) is the most frequent sex abnormality in females, generally associated with a 45,X0 karyotype. Although neurological complications are frequently part of the clinical picture, serious brain abnormalities are quite rare in TS. Epilepsy in TS is not frequent and so far only few cases have been reported, usually associated with cortical dysplasias. We report a Turner patient showing severe neurological impairment, refractory epilepsy and MRI finding of bilateral perisylvian hypoplasia. The possible dysgenetic role of X-chromosome on cortical morphogenesis is also discussed.

Intractable epilepsy in Turner syndrome associated with bilateral perisylvian hypoplasia: one case report / Striano, Salvatore; Striano, P.; Tortora, F.; Elefante, Andrea. - In: CLINICAL NEUROLOGY AND NEUROSURGERY. - ISSN 0303-8467. - ELETTRONICO. - 108:(2005), pp. 56-59. [10.1016/j.clineuro.2004.11.012]

Intractable epilepsy in Turner syndrome associated with bilateral perisylvian hypoplasia: one case report.

STRIANO, SALVATORE;F. Tortora;ELEFANTE, ANDREA
2005

Abstract

Turner syndrome (TS) is the most frequent sex abnormality in females, generally associated with a 45,X0 karyotype. Although neurological complications are frequently part of the clinical picture, serious brain abnormalities are quite rare in TS. Epilepsy in TS is not frequent and so far only few cases have been reported, usually associated with cortical dysplasias. We report a Turner patient showing severe neurological impairment, refractory epilepsy and MRI finding of bilateral perisylvian hypoplasia. The possible dysgenetic role of X-chromosome on cortical morphogenesis is also discussed.
2005
Intractable epilepsy in Turner syndrome associated with bilateral perisylvian hypoplasia: one case report / Striano, Salvatore; Striano, P.; Tortora, F.; Elefante, Andrea. - In: CLINICAL NEUROLOGY AND NEUROSURGERY. - ISSN 0303-8467. - ELETTRONICO. - 108:(2005), pp. 56-59. [10.1016/j.clineuro.2004.11.012]
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/480231
Citazioni
  • ???jsp.display-item.citation.pmc??? 4
  • Scopus 14
  • ???jsp.display-item.citation.isi??? 9
social impact