Literature DB >> 21214162

Chorioretinal lacunae: pathognomonic findings for Aicardi syndrome.

Silvana Guerriero1, Vittorio Sciruicchio, Roberto De Blasi, Claudio Furino, Giuseppe Smaldone, Lorenza Ciracì, Dante Galeone.   

Abstract

Aicardi syndrome is characterized by agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. The authors describe the case of a girl with chorioretinal lacunae, seizures, and cerebral cyst, but a normal corpus callosum. Incomplete forms of Aicardi syndrome are reported in the literature, but typical choroidal lacunae are always present and are pathognomonic. Copyright 2010, SLACK Incorporated.

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Year:  2010        PMID: 21214162     DOI: 10.3928/01913913-20100324-03

Source DB:  PubMed          Journal:  J Pediatr Ophthalmol Strabismus        ISSN: 0191-3913            Impact factor:   1.402


  2 in total

1.  Aicardi syndrome in two Turkish children.

Authors:  Erhan Bayram; Yasemin Topcu; Gulcin Akinci; Semra Hiz; Handan Cakmakci
Journal:  Ann Saudi Med       Date:  2013 Jan-Feb       Impact factor: 1.526

2.  Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case-series.

Authors:  Léo Pomar; José Ochoa; Sara Cabet; Thierry A G M Huisman; Dario Paladini; Philipp Klaritsch; Aurore Galmiche; Florian Prayer; Sebastián Gacio; Karina Haratz; Gustavo Malinger; Tim Van Mieghem; David Baud; Bryann Bromley; Sébastien Lebon; Estelle Dubruc; Yvan Vial; Laurent Guibaud
Journal:  Prenat Diagn       Date:  2022-01-10       Impact factor: 3.242

  2 in total

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