Coriorretinopatía lacunar como presentación de Síndrome de Aicardi en el lactante
- D. Puertas-Bordallo
- M. Lozano-Vázquez
- B. De Domingo-Barón
- M.L. Ruiz-Falcó Rojas
- L. González-Gutiérrez-Solana
- J. Fernández-Fernández
ISSN: 0365-6691
Year of publication: 2007
Volume: 82
Issue: 5
Pages: 311-314
Type: Article
More publications in: Archivos de la Sociedad Española de Oftalmologia
Abstract
Clinical case: We report the case of an 81-day-old female infant who was brought to the Emergency Department because of a seizure. At 20 weeks of gestational age she was diagnosed to have agenesis of the corpus callosum, with this being confirmed later by magnetic resonance imaging. Ophthalmological examination of the fundus showed peripapillar chorioretinal lesions (lacunar chorioretinopathy) in both eyes. Discussion: Chorioretinal lacunar and retinal pigment epithelial abnormalities are the basis for the diagnosis of this syndrome.
Bibliographic References
- Aicardi, J, Lefebre, J, Lerique-Koechlin, A. (1965). A new síndrome: Spasm in flexion, callosal agenesis, ocular abnormalities. Electroencephalogr Clin Neurophysiol. 19. 609-610
- Aicardi, J. (1999). Aicardi Síndrome: old and new finding. Int Pediatr. 14. 5-8
- Prats Vinas, JM, Martinez Gonzalez, MJ, Garcia Ribes, A, Martinez Gonzalez, S, Martinez Fernandez, R.. (2005). Callosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: Aicardi syndrome without epilepsy?. Dev Med Child Neurol. 47. 419-420
- Lorenzo Rabanal, J, Gallego Villalobos, M, Puertas Bordallo, D, Pérez Belmonte, L, Rozas Reyes, P, Señaris González, A. (2001). Síndrome de Aicardi adulto. Diagnóstico oftalmológico. Acta Estrabológica. 1. 13-16
- Sutton, VR, Hopkins, BJ, Eble, TN, Gambhir, N, Lewis, RA, Van den Veyver, IB. (2005). Facial and physical features of Aicardi syndrome: infants to teenagers. Am J Med Genet A. 138. 254-258