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Aicardi syndrome in two Turkish children

Aicardi syndrome (AS) is an X-linked inherited disorder characterized by infantile spasms, chorioretinal lacunae, and agenesis or hypogenesis of the corpus callosum. The syndrome is more frequently seen in females but is observed in XXY male patients. Central nervous system, ocular, and costovertebr...

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Detalles Bibliográficos
Autores principales: Bayram, Erhan, Topcu, Yasemin, Akinci, Gulcin, Hiz, Semra, Cakmakci, Handan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: King Faisal Specialist Hospital and Research Centre 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6078574/
https://www.ncbi.nlm.nih.gov/pubmed/22750766
http://dx.doi.org/10.5144/0256-4947.2012.01.7.1545
Descripción
Sumario:Aicardi syndrome (AS) is an X-linked inherited disorder characterized by infantile spasms, chorioretinal lacunae, and agenesis or hypogenesis of the corpus callosum. The syndrome is more frequently seen in females but is observed in XXY male patients. Central nervous system, ocular, and costovertebral malformations may also seen in AS. Eye findings are of a considerable diagnostic importance; the chorioretinal lacunae are pathognomonic for AS and are generally bilateral. The outcome of the disease is generally severe, with a high mortality rate and poor developmental outcome. It is not clear which characteristics of the syndrome are related to a good prognosis in terms of psychomotor development, epileptic seizures, and survival. The purpose of this report was to demonstrate the spectrum of the clinical findings and the course of AS in two Turkish patients with different ocular and cranial MRI findings.