Novel presentation of Aicardi syndrome with agenesis of the corpus callosum and an orbital cyst

Parmbir S. Sandhu, Kathleen Khong, John P McGahan, Kyung Ro, William C. Lloyd, Dena Towner

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

Agenesis or dysgenesis of the corpus callosum is a rare human brain malformation. 1 Prenatal sonography may be used to reliably diagnose corpus callosum anomalies.2 Once an abnormality of the corpus callosum is detected, there is a high clinical suspicion for other central nervous system anomalies, which may be associated with a specific congenital syndrome. One such entity, Aicardi syndrome, presents with the classic triad of agenesis of the corpus callosum (ACC), infantile spasms, and chorioretinal lacunae. Other intracerebral findings in Aicardi syndrome may include gross cerebral asymmetry with polymicrogyria or pachygyria, periventricular and intracortical gray matter heterotopia, choroid plexus papillomas, ventriculomegaly, and intracerebral cysts, including choroid plexus, arachnoid, and posterior fossa cysts.3,4 A less common presentation is that of retro-orbital cysts and optic nerve hypoplasia.5,6 We present a case of Aicardi syndrome with characteristic sonographic findings of ACC and a retro-orbital cyst seen on fetal and postnatal magnetic resonance imaging (MRI).

Original languageEnglish (US)
Pages (from-to)843-846
Number of pages4
JournalJournal of Ultrasound in Medicine
Volume29
Issue number5
StatePublished - May 1 2010

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ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Radiological and Ultrasound Technology
  • Medicine(all)

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