Prenatal diagnosed cyst of the quadrigeminal cistern in Aicardi syndrome

Childs Nerv Syst. 2009 May;25(5):521-2. doi: 10.1007/s00381-008-0772-8. Epub 2008 Dec 24.

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.

Publication types

  • Case Reports

MeSH terms

  • Agenesis of Corpus Callosum*
  • Arachnoid Cysts / pathology*
  • Brain Diseases / diagnosis*
  • Brain Diseases / pathology
  • Female
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Prenatal Diagnosis
  • Retinal Diseases / pathology*
  • Spasms, Infantile / pathology*
  • Syndrome
  • Tectum Mesencephali / abnormalities*