Document Detail

Aicardi syndrome in a male patient.
MedLine Citation:
PMID:  19639527     Owner:  NLM     Status:  MEDLINE    
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.
S Anderson; B Menten; M von Kogelenberg; S Robertson; M Waginger; H-J Mentzel; U Brandl; G Skirl; P Willems
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2009-07-28
Journal Detail:
Title:  Neuropediatrics     Volume:  40     ISSN:  1439-1899     ISO Abbreviation:  Neuropediatrics     Publication Date:  2009 Feb 
Date Detail:
Created Date:  2009-07-29     Completed Date:  2009-10-16     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8101187     Medline TA:  Neuropediatrics     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  39-42     Citation Subset:  IM    
Copyright Information:
Copyright Georg Thieme Verlag KG Stuttgart New York.
Department of Neuropaediatrics, Childrens Hospital, Friedrich-Schiller-University, Jena, Germany.
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MeSH Terms
Choroid / abnormalities*
Contractile Proteins / genetics
Corpus Callosum / abnormalities*
Electroencephalography / methods
Microfilament Proteins / genetics
Spasms, Infantile / genetics,  pathology*,  physiopathology*
X-Ray Microtomography / methods
Reg. No./Substance:
0/Contractile Proteins; 0/Microfilament Proteins; 0/filamins

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