| Literature DB >> 19107491 |
Laura Columbano1, Wolf Luedemann, Yasuko Kusaka, Shizuo Oi, Madjid Samii.
Abstract
Aicardi syndrome is an X-linked dominant disorder characterized by the pathognonomic association of three clinical signs: agenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae. This is a severe syndrome with an estimated survival rate of 76% at 6 years and 40% at 14 years and a maximum developmental level like a 12-month-old baby in 91% of cases. We illustrate a case of Aicardi syndrome with bilateral, small chorioretinal lacunae, infantile spasms with a typical hypsarrhythmia, defects of thoracic vertebra and bilateral absence of the 12th rib associated with an arachnoid cyst of the quadrigeminal cistern, and presence of the corpus callosum with a favorable outcome.Entities:
Mesh:
Year: 2008 PMID: 19107491 DOI: 10.1007/s00381-008-0772-8
Source DB: PubMed Journal: Childs Nerv Syst ISSN: 0256-7040 Impact factor: 1.475