Neuroimaging Findings in Griscelli syndrome: A case report and review of the literature

Our case involved a 1-year-old female with multiple admissions for chest infections. Given her family history and high clinical suspicion, a diagnosis of Griscelli syndrome and hemophagocytic lymphohistiocytosis was made. Her work-up included a brain MRI, which revealed diffuse volume loss and corpu...

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Autores principales: Alsugair, Faisal, Jadkareem, Dalia, Alhazmi, Rami, Alhaidey, Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7501490/
https://www.ncbi.nlm.nih.gov/pubmed/32994837
http://dx.doi.org/10.1016/j.radcr.2020.09.005
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author Alsugair, Faisal
Jadkareem, Dalia
Alhazmi, Rami
Alhaidey, Ali
author_facet Alsugair, Faisal
Jadkareem, Dalia
Alhazmi, Rami
Alhaidey, Ali
author_sort Alsugair, Faisal
collection PubMed
description Our case involved a 1-year-old female with multiple admissions for chest infections. Given her family history and high clinical suspicion, a diagnosis of Griscelli syndrome and hemophagocytic lymphohistiocytosis was made. Her work-up included a brain MRI, which revealed diffuse volume loss and corpus callosum hypogenesis associated with a diffuse simplified pattern of the sulci and gyri compatible with lissencephaly. We describe hypogenesis of the corpus callosum and lissencephaly for the first time in this syndrome.
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spelling pubmed-75014902020-09-28 Neuroimaging Findings in Griscelli syndrome: A case report and review of the literature Alsugair, Faisal Jadkareem, Dalia Alhazmi, Rami Alhaidey, Ali Radiol Case Rep Case Report Our case involved a 1-year-old female with multiple admissions for chest infections. Given her family history and high clinical suspicion, a diagnosis of Griscelli syndrome and hemophagocytic lymphohistiocytosis was made. Her work-up included a brain MRI, which revealed diffuse volume loss and corpus callosum hypogenesis associated with a diffuse simplified pattern of the sulci and gyri compatible with lissencephaly. We describe hypogenesis of the corpus callosum and lissencephaly for the first time in this syndrome. Elsevier 2020-09-15 /pmc/articles/PMC7501490/ /pubmed/32994837 http://dx.doi.org/10.1016/j.radcr.2020.09.005 Text en © 2020 The Authors. Published by Elsevier Inc. on behalf of University of Washington. 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
Alsugair, Faisal
Jadkareem, Dalia
Alhazmi, Rami
Alhaidey, Ali
Neuroimaging Findings in Griscelli syndrome: A case report and review of the literature
title Neuroimaging Findings in Griscelli syndrome: A case report and review of the literature
title_full Neuroimaging Findings in Griscelli syndrome: A case report and review of the literature
title_fullStr Neuroimaging Findings in Griscelli syndrome: A case report and review of the literature
title_full_unstemmed Neuroimaging Findings in Griscelli syndrome: A case report and review of the literature
title_short Neuroimaging Findings in Griscelli syndrome: A case report and review of the literature
title_sort neuroimaging findings in griscelli syndrome: a case report and review of the literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7501490/
https://www.ncbi.nlm.nih.gov/pubmed/32994837
http://dx.doi.org/10.1016/j.radcr.2020.09.005
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