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.

Further Reading

Last Updated: Jul 6, 2023

Dr. Ananya Mandal

Written by

Dr. Ananya Mandal

Dr. Ananya Mandal is a doctor by profession, lecturer by vocation and a medical writer by passion. She specialized in Clinical Pharmacology after her bachelor's (MBBS). For her, health communication is not just writing complicated reviews for professionals but making medical knowledge understandable and available to the general public as well.


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