Aicardi syndrome: an unusual case associated with pineal gland cyst and ventricular septal defect

J Child Neurol. 2006 Dec;21(12):1082-4. doi: 10.1177/7010.2006.00233.

Abstract

Aicardi syndrome is a cerebroretinal disorder consisting of a heterogeneous spectrum of clinical findings that includes the triad of infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae. This report describes a 6-month-old girl who has all of the essential features suggestive of Aicardi syndrome, as well as a pineal gland cyst and ventricular septal defect. Although the characteristic features of Aicardi syndrome have been described, its association with pineal gland cyst and ventricular septal defect has not been reported in the literature.

Publication types

  • Case Reports

MeSH terms

  • Agenesis of Corpus Callosum
  • Central Nervous System Cysts / complications
  • Central Nervous System Cysts / pathology*
  • Central Nervous System Cysts / physiopathology
  • Choroid / abnormalities
  • Comorbidity
  • Eye Abnormalities / complications
  • Eye Abnormalities / pathology
  • Eye Abnormalities / physiopathology
  • Female
  • Heart Septal Defects, Ventricular / complications
  • Heart Septal Defects, Ventricular / pathology*
  • Heart Septal Defects, Ventricular / physiopathology
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Nervous System Malformations / complications*
  • Nervous System Malformations / pathology*
  • Nervous System Malformations / physiopathology
  • Pineal Gland / pathology*
  • Pineal Gland / physiopathology
  • Retina / abnormalities
  • Spasms, Infantile / complications
  • Spasms, Infantile / pathology
  • Spasms, Infantile / physiopathology
  • Syndrome