HUM-MOLGEN DIAGnostics/Clinical Research


patient with agenesis of corpus callosum

I would like to share your experience regarding a patient. He is a 6 months old male with bilateral colobomas of iris, retina and optic nerve, agenesis of corpus callosum, periventricular heterotopias,unilateral corneal opacity,tonic seizures, mental retardation, normal karyotype, enophthalmia, hydronephrosis. Is this a male case of Aicardi syndrome? The severe corneal opacity is not described but it is a feature of another disorder that maps to the same region on Xp22.3. Could this be a variant of peter's anomaly plus syndrome? Suggestions?

Tally Sagie MD, Pediatric Neurology ,Wolfson Medical Center, Israel