Cargando…
Aicardi syndrome in a 20-year-old female()
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 the...
Autores principales: | , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6143771/ https://www.ncbi.nlm.nih.gov/pubmed/30238067 http://dx.doi.org/10.1016/j.ajoc.2018.09.004 |
_version_ | 1783356036189519872 |
---|---|
author | Mavrommatis, Maria A. Friedman, Alan H. Fowkes, Mary E. Hefti, Marco M. |
author_facet | Mavrommatis, Maria A. Friedman, Alan H. Fowkes, Mary E. Hefti, Marco M. |
author_sort | Mavrommatis, Maria A. |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-6143771 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-61437712018-09-20 Aicardi syndrome in a 20-year-old female() Mavrommatis, Maria A. Friedman, Alan H. Fowkes, Mary E. Hefti, Marco M. Am J Ophthalmol Case Rep Case report 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. Elsevier 2018-09-06 /pmc/articles/PMC6143771/ /pubmed/30238067 http://dx.doi.org/10.1016/j.ajoc.2018.09.004 Text en © 2018 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case report Mavrommatis, Maria A. Friedman, Alan H. Fowkes, Mary E. Hefti, Marco M. Aicardi syndrome in a 20-year-old female() |
title | Aicardi syndrome in a 20-year-old female() |
title_full | Aicardi syndrome in a 20-year-old female() |
title_fullStr | Aicardi syndrome in a 20-year-old female() |
title_full_unstemmed | Aicardi syndrome in a 20-year-old female() |
title_short | Aicardi syndrome in a 20-year-old female() |
title_sort | aicardi syndrome in a 20-year-old female() |
topic | Case report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6143771/ https://www.ncbi.nlm.nih.gov/pubmed/30238067 http://dx.doi.org/10.1016/j.ajoc.2018.09.004 |
work_keys_str_mv | AT mavrommatismariaa aicardisyndromeina20yearoldfemale AT friedmanalanh aicardisyndromeina20yearoldfemale AT fowkesmarye aicardisyndromeina20yearoldfemale AT heftimarcom aicardisyndromeina20yearoldfemale |