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.
Reviewed by Sally Robertson, BSc