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  Sep 28, 2018

Aicardi Syndrome Diagnosis

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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.

Sources

  1. http://www.ninds.nih.gov/disorders/aicardi/aicardi.htm
  2. www.epilepsy.ie/.../SCAE_Aicardi_Syndrome.pdf
  3. deepblue.lib.umich.edu/.../410050513_ftp.pdf?sequence=1
  4. mtdeafblind.ruralinstitute.umt.edu/.../EtiologiesCharacteristics.pdf