These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Aicardi syndrome in a male patient.
    Author: Anderson S, Menten B, Kogelenberg Mv, Robertson S, Waginger M, Mentzel HJ, Brandl U, Skirl G, Willems P.
    Journal: Neuropediatrics; 2009 Feb; 40(1):39-42. PubMed ID: 19639527.
    Abstract:
    Aicardi syndrome ( OMIM 304050) is defined by the clinical triad of early-onset infantile spasms, agenesis of the corpus callosum and chorioretinal lacunae. Almost all patients are females showing severe cognitive and physical disabilities, and early onset seizures. Astrocytic inclusions containing filamin have been found, but the molecular defect in Aicardi syndrome is not yet known. We report a male patient with Aicardi syndrome characterised by agenesis of the corpus callosum, infantile spasms, chorioretinal lacunae, severe psychomotor retardation, periventricular heterotopias, and patent ductus arteriosus. As the latter two symptoms are suggestive of a mutation in the FLNA gene encoding filamin A, this gene was sequenced, but the sequence did not reveal a disease-causing mutation.
    [Abstract] [Full Text] [Related] [New Search]