Aicardi syndrome with peripapillary staphyloma: A case report and review of literature
Acta Medica Philippina
; : 81-86, 2021.
Artigo
em Inglês
| WPRIM (Pacífico Ocidental)
| ID: wpr-959980
Biblioteca responsável:
WPRO
ABSTRACT
@#<p style="text-align justify;">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.</p>
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Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Espasmos Infantis
/
Síndrome de Aicardi
Idioma:
Inglês
Revista:
Acta Medica Philippina
Ano de publicação:
2021
Tipo de documento:
Artigo