Aicardi Syndrome

Alternative names:

chorioretinal anomalies-corpus callosum agenesis-infantile spasms syndrome; corpus callosum agenesis-chorioretinopathy-infantile spasms syndrome; corpus callosum agenesis-ocular anomalies-salaam seizures syndrome.

Symptoms:

• small, deformed head
• small eyes
• eyelid twitching
• low set ears
• spinal deformities
• decreased muscle tone
• blue color to skin (cyanosis)
• birthmarks
• infantile spasms, epileptic seizures
• motormental retardation

Signs and tests:

Examination of the eye may reveal a lack of pupil response (the pupil does not constrict when exposed to light), chorioretinal lesions, and optic nerve lesions.

A CT scan of the head and an EEG may be performed to determine abnormalities of the brain.