Prenatal diagnosed cyst of the quadrigeminal cistern in Aicardi syndrome.
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.
Columbano
Laura
L
Department of Neurosurgery Hannover, International Neuroscience Institute, Rudolf Pichlmayr-Str 4, 30625 Hannover, Germany. columbano@ini-hannover.de
Luedemann
Wolf
W
Kusaka
Yasuko
Y
Oi
Shizuo
S
Samii
Madjid
M
D061085:Agenesis of Corpus Callosum; D016080:Arachnoid Cysts / Q000473:pathology*; D001927:Brain Diseases / Q000175:diagnosis* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D011296:Prenatal Diagnosis; D012164:Retinal Diseases / Q000473:pathology*; D013036:Spasms, Infantile / Q000473:pathology*; D013577:Syndrome; D003336:Tectum Mesencephali / Q000002:abnormalities*