Prenatal diagnosed cyst of the quadrigeminal cistern in Aicardi syndrome |
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Authors: | Laura Columbano Wolf Luedemann Yasuko Kusaka Shizuo Oi Madjid Samii |
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Affiliation: | (1) Department of Neurosurgery Hannover, International Neuroscience Institute, Rudolf Pichlmayr-Str 4, 30625 Hannover, Germany |
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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. |
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Keywords: | Aicardi syndrome Fetal arachnoid cyst Quadrigeminal cistern Intrauterine MRI |
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