Aicardi Syndrome Diagnosis

By Dr. Ananya Mandal, MDReviewed by Sally Robertson, B.Sc.

Some of the clinical features of Aicardi syndrome include:

• Partial or complete absence of thecorpus callosum, an important structure that links the two halves of the brain
• Infantile spasms start to develop at around three months of age
• Yellowish, spot-like lesions on the retina called chorioretinal lacunae
• The condition usually affects girls or boys who are born with an additional X chromosome (Klinefelter’s syndrome).
• Small head circumference (microcephaly)
• Low muscle tone in the head and trunk
• Spasticity of the limbs
• Intellectual disability and developmental delay
• Small eyes (microphthalmia)
• Skeletal abnormality such as absent ribs or deformity of the spinal vertebrae
• Skin problems
• Facial asymmetry
• Small hands
• Increased risk of solid tumors

A diagnosis of Aicardi syndrome is usually made based on a child’s symptoms and findings from clinical examination. Some of the tests used to diagnose this condition are described below:

• An ophthalmoscopic examination of the retina is performed to reveal the presence of chorioretinal lacunae.
• Imaging studies of the brain include a CT scan and an MRI scan to check whether the corpus callosum is abnormal or absent.
• An EEG (electroencephalogram) test is used to asses electrical activity in the brain.

Further Reading

• All Aicardi Syndrome Content
• What is Aicardi Syndrome?
• Aicardi Syndrome Genetics
• Aicardi Syndrome Treatment