Case Report Volume 3 Issue 5 - May 2017 DOI: 10.19080/OAJNN.2017.03.555625 Open Access J Neurol Neurosurg Copyright © All rights are reserved by Juan Pablo Appendino Case Report: Aicardi Syndrome presenting as Cleft Lip and Palate Danielle Weidman 1 and Juan Pablo Appendino 2 * 1 Paediatric Resident, The Hospital for Sick Children, University of Toronto, Canada 2 Department of Pediatrics, University of Calgary, Canada Submission: March 02, 2017; Published: May 30, 2017 *Corresponding author: Juan Pablo Appendino, Clinical Associate Professor, Department of Paediatrics, Cumming School of Medicine, University of Calgary, Pediatric Epilepsy and Child Neurology, Alberta Children’s Hospital 2888 Shaganappi Trail NW, Calgary, AB T3B 6A8, Tel: Fax: 403-955-7609; Pager: 403-212-8223 #14691; Email: Introduction Aicardi syndrome (AS) is a relatively rare disease that was originally described in 1965 by a French neurologist named Dr. Jean Aicardi.AS consists of a classically described triad including partial or total agenesis of the corpus callosum, unilateral or bilateral chorio retinal lacunaes, and infantile spasms [1]. The causative gene mutation for Aicardi syndrome has not yet been determined although it seems to occur in patients with two X chromosomes as a result of heterozygous defects in an essential X-linked gene or by defects in an autosomal gene with sex-limited expression but not by a copy number variant [2]. Evidence supports early embryonic lethality in hemizygous males. However, there are known cases of Aicardi syndrome in males with XXY karyotype [1-11] and one male with XY karyotype with the classic clinical trial of Aicardi syndrome [12]. The incidence of Aicardi syndrome in the United States is estimated to be 1per 105,000 births [11] and the know prevalence in Norway is 0.63 per 100,000 females [13] while the prevalence worldwide is approximately several thousand [11]. Despite chorio retinal lacunae being the most common, reliable and pathognomonic findings for this syndrome; other features associated with AS have been described, including cortical malformations, intracranial cysts, focal seizures, mental retardation, vertebral anomalies, cleft lip and palate and eye abnormalities. [1] Cleft lip and palate is believe to occur in about only 3% of patients with AS [9]; however, it usually first presents to the pediatrician for medical advice. Awareness of AS and its diagnostic challenge among our pediatrician colleaguesis necessary. This case report tries to illustrate the most common diagnostic criteria with the aim to educate our medical community. Case Report Figure 1: The patient’s left-sided cleft lip and palate. A female infant was born at 41 weeks gestation by induced vaginal delivery to a G1P0 28-year-old mother. The pregnancy was uncomplicated and parents are not consanguineous. Cleft lip was diagnosed prenatally on ultrasound at 29 weeks gestation. At birth, the baby was noted to have a cleft palate as well (Figure 1). Apgar scores were 3 and 8 at 5 and 10 Open Access J Neurol Neurosurg 3(5): OAJNN.MS.ID.555625 (2017) 001 Abstract Aicardi syndrome (AS) is an unusual neurological disorder that was originally described in 1965 by Dr. Jean Aicardi. This disorder is characterized by a triad of abnormalities: agenesis of the corpus callosum, chorio retinal lacunae, and infantile spasms. There are infrequent reports of cleft lip and palate in patients with AS. This report details a case of a patient with AS who presented with left-sided cleft lip and palate and right eye coloboma to her pediatrician; however, the diagnosis of AS was not suspected until later when the she presented with Infantile Spasms. The discussion will focus on the existing literature of AS with cleft lip and palate and ophthalmological findings offering a learning point to the pediatric community in regards with her clinical, neuroimaging and neurophysiological findings for an earlier and appropriate diagnosis.