Aicardi Syndrome with Peripapillary Staphyloma: A Case Report and Review of Literature

  • Jessica Belle A. Sy Baguio General Hospital and Medical Center
  • Roland Joseph D. Tan
Keywords: Aicardi syndrome, Callosal agenesis, infantile spasms, chorioretinal lacunae, peripapillary staphyloma

Abstract

Aicardi Syndrome (AS) is a rare X-linked congenital disorder traditionally characterized by a triad of dysgenesis of corpus callosum, seizures, and chorioretinal abnormalities. Patients often have severe psychomotor delay and shortened life expectancy. However, Aicardi syndrome is a clinically heterogeneous disorder. We present a case of a 14-year-old with the traditional triad of history of infantile spasm, complete agenesis of the corpus callosum, and chorioretinal abnormality but with peripapillary staphyloma and with no psychomotor delays. Based on the review of literature, this is the first reported case of AS in the Philippines, the first reported case of AS with peripapillary staphyloma, and is one of the 3 reported cases of AS with normal psychomotor development. There remains no factor that can prognosticate cognitive function in AS at present including genetic testing.

Author Biography

Jessica Belle A. Sy, Baguio General Hospital and Medical Center

Jessica Sy is a third year resident and currently the chief resident of the Department of Ophthalmology of the Baguio General Hospital and Medical Center in Baguio City.

Published
2021-06-17
Section
Articles

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