title: Aicardi syndrome in a male patient.
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.
authors.affiliation: Department of Neuropaediatrics, Childrens Hospital, Friedrich-Schiller-University, Jena, Germany. s.anderson@web.de
authors.forename: S
authors.initials: S
authors.lastname: Anderson
authors.forename: B
authors.initials: B
authors.lastname: Menten
authors.forename: M von
authors.initials: Mv
authors.lastname: Kogelenberg
authors.forename: S
authors.initials: S
authors.lastname: Robertson
authors.forename: M
authors.initials: M
authors.lastname: Waginger
authors.forename: H-J
authors.initials: HJ
authors.lastname: Mentzel
authors.forename: U
authors.initials: U
authors.lastname: Brandl
authors.forename: G
authors.initials: G
authors.lastname: Skirl
authors.forename: P
authors.initials: P
authors.lastname: Willems
mesh_terms: D061085:Agenesis of Corpus Callosum; D002829:Choroid / Q000002:abnormalities*; D003285:Contractile Proteins / Q000235:genetics; D004569:Electroencephalography / Q000379:methods; D064448:Filamins; D006801:Humans; D007223:Infant; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics; D009154:Mutation; D013036:Spasms, Infantile / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology*; D055114:X-Ray Microtomography / Q000379:methods
chemical_list: D003285:Contractile Proteins; D064448:Filamins; D008840:Microfilament Proteins