A case of Aicardi syndrome with hallmark characteristics
Aicardi syndrome is an X-linked de novo autosomal recessive condition characterized by a triad of symptoms: spasm in flexion, agenesis of the corpus callosum, and a number of ocular abnormalities. These include microphthalmia, atrophic choroiditis, coloboma of the optic nerve, and unusual papillary proliferations of the retinal pigment epithelium (RPE) termed lacunae.

The present report describes a case of Aicardi Syndrome in a 20-yr-old female that affirms both hallmark characteristics of the condition and introduces new observations.

The patient presented in respiratory distress with bradycardia and died soon thereafter. She had a history of severe mental retardation, seizure disorder, advanced scoliosis and numerous contractures in addition to congenital ocular malformations resulting in bilateral blindness.

The case is notable for her age and longevity, as most patients with Aicardi Syndrome expire much younger, as well as the presence of intact nuclei under the posterior lens capsule.

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