Report an error   
Advanced Search


Aicardi syndrome with peripapillary staphyloma: A case report and review of literature.

Author

Jessica Belle  A. Sy,
Roland Joseph D. Tan

Publication Information

Publication Type
Journal
Publication Sub Type
Journal Article, Original
Title
Acta Medica Philippina
Frequency
Bimonthly
Publication Date
2022
Volume
56
Issue
10
Page(s)
81-86

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.

Physical Location

LocationLocation CodeAvailable FormatAvailability
Acta Medica Philippina Fulltext External Link (View)

 
Loading…
©2022 HERDIN PLUS. All rights reserved. | Contact Us | Keep up to date