Síndrome de Aicardi: revisión bibliográfica

  1. Toledo Gotor, Cristina
  2. García Muro, Cristina
  3. de Pablo de las Heras, María
  4. Pasamón García, Sara
  5. Salvá Artega, Myriam
  6. García Oguiza, Alberto
Zeitschrift:
Pediatría (Asunción): Organo Oficial de la Sociedad Paraguaya de Pediatría

ISSN: 1683-9803

Datum der Publikation: 2023

Titel der Ausgabe: Enero - Abril

Ausgabe: 50

Nummer: 1

Seiten: 64-71

Art: Artikel

DOI: 10.31698/PED.50012023011 DIALNET GOOGLE SCHOLAR lock_openDialnet editor

Andere Publikationen in: Pediatría (Asunción): Organo Oficial de la Sociedad Paraguaya de Pediatría

Ziele für nachhaltige Entwicklung

Zusammenfassung

Introduction: Aicardi syndrome (AS; OMIM #304050) is a rare genetic disorder, with an incidence of approximately 1/100,000. It was described in 1965 as a triad consisting of agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. It is associated with severe intellectual disability and difficult-to-control epilepsy. Although its clinical spectrum is variable, it generally has a poor prognosis due to the associated morbidity and mortality. It is considered a sporadic disorder caused by heterozygous pathogenic variants of a gene linked to the X chromosome, which causes embryonic mortality in hemizygous males. Objective: this article performs a bibliographic review of the available scientific literature on Aicardi syndrome. In doing so, we hope to update the disorder's definitions, prevalence and incidence, etiology, clinical spectrum and prognosis of affected patients. we performed a Materials and methods: retrospective bibliographic search in the main scientific databases. For this, we searched for the keywords "Aicardi", "agenesia of the corpus callosum", "infantile spasms" and "epileptic encephalopathy". since it was first Conclusions:described, the spectrum of clinical manifestations of the syndrome has been expanding. Currently, there is no known biomarker that makes diagnosis possible, so it continues to be eminently clinical diagnosis. A high level of suspicion should be present in cases of early-onset infantile spasms in women with neuroimaging abnormalities

Bibliographische Referenzen

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