Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature

Lenz microphthalmia syndrome (LMS) is an allelic X-linked syndrome correlated to a null mutation of B cell lymphoma (BCL-6) corepressor (BCOR) gene, which is essential in the early embryonic development. Phenotypically, this rare hereditary syndrome is characterized by microphthalmia/anophthalmia an...

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Autores principales: Monticelli, Matteo, De Marco, Raffaele, Garbossa, Diego
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8342332/
https://www.ncbi.nlm.nih.gov/pubmed/33491151
http://dx.doi.org/10.1007/s00381-020-05035-1
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author Monticelli, Matteo
De Marco, Raffaele
Garbossa, Diego
author_facet Monticelli, Matteo
De Marco, Raffaele
Garbossa, Diego
author_sort Monticelli, Matteo
collection PubMed
description Lenz microphthalmia syndrome (LMS) is an allelic X-linked syndrome correlated to a null mutation of B cell lymphoma (BCL-6) corepressor (BCOR) gene, which is essential in the early embryonic development. Phenotypically, this rare hereditary syndrome is characterized by microphthalmia/anophthalmia and other eye disorders; mental disability; dental, ear, and digital abnormalities; and variable malformations affecting the heart, skeleton (limbs and/or spine), and genitourinary tract. In this paper, a case of a young adult with LMS affected additionally by immuno-hematological disturbances was treated with decompressive craniectomy after domestic accidental fall. Case description and a brief review of the current literature about this rare condition are presented here.
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spelling pubmed-83423322021-08-20 Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature Monticelli, Matteo De Marco, Raffaele Garbossa, Diego Childs Nerv Syst Case Report Lenz microphthalmia syndrome (LMS) is an allelic X-linked syndrome correlated to a null mutation of B cell lymphoma (BCL-6) corepressor (BCOR) gene, which is essential in the early embryonic development. Phenotypically, this rare hereditary syndrome is characterized by microphthalmia/anophthalmia and other eye disorders; mental disability; dental, ear, and digital abnormalities; and variable malformations affecting the heart, skeleton (limbs and/or spine), and genitourinary tract. In this paper, a case of a young adult with LMS affected additionally by immuno-hematological disturbances was treated with decompressive craniectomy after domestic accidental fall. Case description and a brief review of the current literature about this rare condition are presented here. Springer Berlin Heidelberg 2021-01-25 2021 /pmc/articles/PMC8342332/ /pubmed/33491151 http://dx.doi.org/10.1007/s00381-020-05035-1 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Case Report
Monticelli, Matteo
De Marco, Raffaele
Garbossa, Diego
Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature
title Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature
title_full Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature
title_fullStr Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature
title_full_unstemmed Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature
title_short Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature
title_sort lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8342332/
https://www.ncbi.nlm.nih.gov/pubmed/33491151
http://dx.doi.org/10.1007/s00381-020-05035-1
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