Neuropediatrics 2009; 40(1): 39-42
DOI: 10.1055/s-0029-1220760
Short Communication

© Georg Thieme Verlag KG Stuttgart · New York

Aicardi Syndrome in a Male Patient

S. Anderson 1 , B. Menten 2 , M. von Kogelenberg 3 , S. Robertson 3 , M. Waginger 4 , H.-J. Mentzel 4 , U. Brandl 1 , G. Skirl 1 , P. Willems 5
  • 1Department of Neuropaediatrics, Childrens Hospital, Friedrich-Schiller-University, Jena, Germany
  • 2Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
  • 3Department of Paediatrics and Child Health, University of Otago, Dunedin, New Zealand
  • 4Department of Paediatric Radiology, Institute of Diagnostic and Interventional Radiology, Friedrich-Schiller-University, Jena, Germany
  • 5GENDIA, GENetic DIAgnostic network, Antwerp, Belgium
Further Information

Publication History

received 15.12.2008 revised 10.02.2009

accepted 04.04.2009

Publication Date:
28 July 2009 (online)

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.

References

Correspondence

S. Anderson

Friedrich-Schiller-University Jena

Klinik für Kinder und Jugendmedizin

Kochstr. 2

07749 Jena

Germany

Phone: +49/3641/938 260

Email: s.anderson@web.de