Aicardi syndrome in a 20-year-old female.
Aicardi syndrome in a 20-year-old female.
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DOI：
10.1016/j.ajoc.2018.09.004
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发表时间：
2018-12
影响因子：
--
通讯作者：
Hefti MM
中科院分区：
文献类型：
--
作者：
Mavrommatis MA;Friedman AH;Fowkes ME;Hefti MM
To describe an unusual case of Aicardi Syndrome that both affirms hallmark characteristics of the condition and introduces new 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. 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.
