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Aicardi syndrome in a 20-year-old female.

ABSTRACT:

Purpose

To describe an unusual case of Aicardi Syndrome that both affirms hallmark characteristics of the condition and introduces new observations.

Observations

We report the case of a 20-year-old woman with Aicardi Syndrome who 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.

Conclusions and importance

Aicardi Syndrome is a rare X-linked cerebro-retinal disorder typified by seizures, agenesis of the corpus callosum, and chorioretinal lacunae. Documenting alterations from and additions to this triad of symptoms is critical to better understanding both the syndrome itself, as well as the full breadth of its clinical impact on the patient.

SUBMITTER: Mavrommatis MA

PROVIDER: S-EPMC6143771 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature

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Aicardi syndrome in a 20-year-old female.

Mavrommatis Maria A MA Friedman Alan H AH Fowkes Mary E ME Hefti Marco M MM

American journal of ophthalmology case reports 20180906

<h4>Purpose</h4>To describe an unusual case of Aicardi Syndrome that both affirms hallmark characteristics of the condition and introduces new observations.<h4>Observations</h4>We report the case of a 20-year-old woman with Aicardi Syndrome who 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 bilater ...[more]

PMID: 30238067

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