Diagnostic approach to Aicardi syndrome: A case report.

Abstract

Aicardi syndrome is an X-linked-dominant genetic condition that is present almost exclusively in females. To diagnose Aicardi syndrome, the classic triad of agenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae must be present. Here, we described a case of a female newborn baby delivered at 36 weeks of gestation that arrived at the emergency department with stiffening of arms and legs; therefore, an electroencephalogram was performed, showing generalized polypots confirming infantile spasms. Moreover, magnetic resonance was performed, showing complete agenesis of the corpus callosum. The patient was then transferred for an ophthalmoscopic examination, which evidenced multiple hypopigmented chorioretinal lesions corresponding to chorioretinal lacunae. Based on the clinical and radiological findings, the diagnosis of Aicardi syndrome was established, and treatment with anticonvulsive therapy and physiotherapy was initiated. This case report highlights the main characteristics that clinicians should consider to suspect this rare genetic condition, emphasizing the imaging and electroencephalographic findings.

• Authors: Nury Tatiana Rincón Cuenca, María Fernanda Castro Peñaranda, Camilo Andres Calderón Valderrama, Santiago Aristizábal Ortiz, Andrés Felipe Herrera Ortiz
• Journal: Radiology case reports (Radiol Case Rep) Vol. 17 Issue 9 Pg. 3035-3039 (Sep 2022) ISSN: 1930-0433 [Print] Netherlands
• PMID: 35755116 (Publication Type: Case Reports)
• Copyright: © 2022 The Authors. Published by Elsevier Inc. on behalf of University of Washington.