Article
Aicardi syndrome in a male patient.
Neuropediatrics - 1 Feb 2009
Anderson S, Menten B, Kogelenberg M von, Robertson S, Waginger M, Mentzel H-J, Brandl U, Skirl G, Willems P
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.