Erschienen in:
01.05.2009 | Brief Communication
Prenatal diagnosed cyst of the quadrigeminal cistern in Aicardi syndrome
verfasst von:
Laura Columbano, Wolf Luedemann, Yasuko Kusaka, Shizuo Oi, Madjid Samii
Erschienen in:
Child's Nervous System
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Ausgabe 5/2009
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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 the12th rib associated with an arachnoid cyst of the quadrigeminal cistern, and presence of the corpus callosum with a favorable outcome.