Laterality of Brain and Ocular Lesions in Aicardi Syndrome

• Published in: Pediatric neurology Vol. 45; no. 3; pp. 149 - 154
• Main Authors: Cabrera, Michelle T., MD, Winn, Bryan J., MD, Porco, Travis, PhD, MPH, Strominger, Zoe, BA, Barkovich, A. James, MD, Hoyt, Creig S., MD, Wakahiro, Mari, MSW, Sherr, Elliott H., MD, PhD
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01-09-2011; Elsevier
• Subjects: Adolescent; Aicardi Syndrome - pathology; Biological and medical sciences; Brain - pathology; Child; Child, Preschool; Coloboma - etiology; Coloboma - pathology; Eye - pathology; Female; Functional Laterality - physiology; Humans; Infant; Injuries of the nervous system and the skull. Diseases due to physical agents; Magnetic Resonance Imaging; Male; Medical sciences; Microphthalmos - etiology; Microphthalmos - pathology; Neurologic Examination; Neurology; Pediatrics; Traumas. Diseases due to physical agents; Young Adult; Eye; Visual system; Eye disease; Nervous system diseases; Malformation; Aicardi syndrome; Central nervous system disease; Central nervous system; Laterality; Congenital disease; Cerebral disorder; Encephalon
• ISSN: 0887-8994; 1873-5150
• DOI: 10.1016/j.pediatrneurol.2011.04.007

Abstract This study reports a large case series of children with Aicardi syndrome. A new severity scoring system is established to assess sidedness of ocular and brain lesions. Thirty-five children were recruited from Aicardi syndrome family conferences. All children received dilated ophthalmologic examinations, and brain magnetic resonance images (MRIs) were reviewed. Ocular and brain MRI Aicardi lesion severity scores were devised. A linear mixed model was used to compare each side for the ocular and brain MRI severity scores of Aicardi-associated disease. Twenty-six children met the inclusion criteria for the study. All subjects were female, ages 3 months to 19 years. Rates per child of optic nerve coloboma, severe lacunae, and microphthalmos in one or both eyes (among those with complete fundus examinations available) were 10/24 (42%), 8/22 (36%), and 7/26 (27%), respectively. Ocular and brain MRI asymmetry was found in 18% (4/22) and 58% (15/26) of subjects, respectively, with more right-sided brain lesions than left-sided ones ( V  = 52, P  = 0.028). A significant correlation between sidedness of brain disease and microphthalmos was noted ( T  = 2.54, P  = 0.02). This study substantiates the range and severity of Aicardi syndrome-associated ophthalmologic and brain MRI lesions from prior smaller case series.