Publicação
Primary Ciliary Dyskinesia and Hydrocephalus With Aqueductal Stenosis
| Resumo: | We report 1 female patient with situs inversus, dextrocardia, a complex heart malformation, hydrocephalus due to aqueductal stenosis, and abnormal ultrastructure of the respiratory epithelium cilia. Several animal models of this disorder implicate abnormal ciliary function in the genesis of hydrocephalus, and 11 patients were previously reported with hydrocephalus and the syndrome of primary ciliary dyskinesia. primary ciliary dyskinesia–associated aqueductal stenosis should be considered as a possible cause for fetal or neonatal hydrocephalus if heterotaxy, heart malformations, and/or a probable genetic etiology are present. |
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| Autores principais: | Vieira, JP |
| Outros Autores: | Lopes, P; Silva, R |
| Assunto: | Transtornos da Motilidade Ciliar Hidrocefalia HDE NEU PED |
| Ano: | 2011 |
| País: | Portugal |
| Tipo de documento: | documento de conferência |
| Tipo de acesso: | acesso aberto |
| Instituição associada: | Centro Hospitalar de Lisboa Central, EPE (CHLC) |
| Idioma: | inglês |
| Origem: | Repositório do Centro Hospitalar de Lisboa Central, EPE |
| Resumo: | We report 1 female patient with situs inversus, dextrocardia, a complex heart malformation, hydrocephalus due to aqueductal stenosis, and abnormal ultrastructure of the respiratory epithelium cilia. Several animal models of this disorder implicate abnormal ciliary function in the genesis of hydrocephalus, and 11 patients were previously reported with hydrocephalus and the syndrome of primary ciliary dyskinesia. primary ciliary dyskinesia–associated aqueductal stenosis should be considered as a possible cause for fetal or neonatal hydrocephalus if heterotaxy, heart malformations, and/or a probable genetic etiology are present. |
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