Case Report
Copyright ©2014 Baishideng Publishing Group Inc. All rights reserved.
World J Radiol. Jul 28, 2014; 6(7): 511-514
Published online Jul 28, 2014. doi: 10.4329/wjr.v6.i7.511
Aicardi syndrome: Neonatal diagnosis by means of transfontanellar ultrasound
Claudio Rodrigues Pires, Edward Araujo Júnior, Adriano Czapkowski, Sebastião Marques Zanforlin Filho
Claudio Rodrigues Pires, Edward Araujo Júnior, Adriano Czapkowski, Sebastião Marques Zanforlin Filho, Referral Center for Teaching of Diagnostic Imaging (CETRUS), São Paulo, SP 05303-000, Brazil
Author contributions: Pires CR contributed to design and data collection; Araujo Júnior E contributed to written of the article; Czapkowski A and Zanforlin Filho SM contributed to review this paper; Zanforlin Filho SM contributed to supervision this paper.
Correspondence to: Edward Araujo Júnior, PhD, Professor, Referral Center for Teaching of Diagnostic Imaging (CETRUS), Rua Carlos Weber, 956 apt. 113 Visage, São Paulo, SP 05303-000, Brazil. araujojred@terra.com.br
Telephone: +55-11-37965944 Fax: +55-11-37965944
Received: November 30, 2013
Revised: May 23, 2014
Accepted: June 18, 2014
Published online: July 28, 2014
Processing time: 243 Days and 3.8 Hours
Abstract

Aicardi syndrome is a rare genetic disease characterized by a characteristic classical trio of neurological clinical abnormalities (spasms), agenesis of the corpus callosum and ophthalmological abnormalities (chorioretinal lacunae). The diagnosis can be suspected by prenatal ultrasound with color Doppler identifying the agenesis of the corpus callosum. Usually, the diagnosis is confirmed in the neonate period by transfontanellar ultrasound and ophthalmological examination. We present a case of newborn with Aicardi syndrome, being the transfontanellar identified partial dysgenesis of the corpus callosum and a cyst in the inter-hemispheric fissure. Ophthalmological examination showed bilateral chorioretinal lacunae.

Keywords: Aicardi syndrome; Neonate; Agenesis of the corpus callosum; Chorioretinal lacunae; Transfontanellar ultrasound

Core tip: Aicardi syndrome is a rare genetic disease characterized by a characteristic classical trio of neurological clinical abnormalities (spasms), agenesis of the corpus callosum and ophthalmological abnormalities (chorioretinal lacunae). The diagnosis can be suspected by prenatal ultrasound with color Doppler identifying the agenesis of the corpus callosum. Usually, the diagnosis is confirmed in the neonate period by transfontanellar ultrasound and ophthalmological examination. Tranfontanellar ultrasound is a cheap and affordable method, with similar accuracy of magnetic resonance imaging.