Cargando…
Simple schwannomatosis or an incomplete Coffin-Siris? Report of a particular case
BACKGROUND: Schwannomatosis is a genetic disorder that belongs to NF family. The mutation of SMARCB1 gene has been related to this entity and Coffin-Siris syndrome, as well. We reported a case of a female patient with SMARCB1 mutation who has developed a spontaneuous spleen rupture. CASE DESCRIPTION...
Autores principales: | , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277249/ https://www.ncbi.nlm.nih.gov/pubmed/30555950 http://dx.doi.org/10.1016/j.ensci.2018.11.021 |
_version_ | 1783378121231171584 |
---|---|
author | Bellantoni, G. Guerrini, F. Del Maestro, M. Galzio, R. Luzzi, S. |
author_facet | Bellantoni, G. Guerrini, F. Del Maestro, M. Galzio, R. Luzzi, S. |
author_sort | Bellantoni, G. |
collection | PubMed |
description | BACKGROUND: Schwannomatosis is a genetic disorder that belongs to NF family. The mutation of SMARCB1 gene has been related to this entity and Coffin-Siris syndrome, as well. We reported a case of a female patient with SMARCB1 mutation who has developed a spontaneuous spleen rupture. CASE DESCRIPTION: A 28 years old female patient with a story of a Sjogren syndrome, celiac disease and a surgically treated schwannoma, presented to our observation in July 2013 for a pain on the left elbow, where a tumefation was present. After neuroradiological evaluations, a surgical resection was performed and a schwannoma was diagnosed. Genetic exams revealed a puntiform SMARCB1 gene mutation. During 2015, she was subdued to the removal of an another schwannoma located into the cervical medullary canal. Few months later, she was operated in an another hospital for a spontaneous spleen rupture in a possible context of wandering spleen. CONCLUSION: We think that the patient could suffer from a partially expressed Coffin-Siris syndrome. No cases of spontaneous rupture in a context of wandering spleen have been ever described as for as schwannomatosis or Coffin-Siris syndrome are concerned. More cases are necessary to establish a direct relationship. |
format | Online Article Text |
id | pubmed-6277249 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-62772492018-12-14 Simple schwannomatosis or an incomplete Coffin-Siris? Report of a particular case Bellantoni, G. Guerrini, F. Del Maestro, M. Galzio, R. Luzzi, S. eNeurologicalSci Case Report BACKGROUND: Schwannomatosis is a genetic disorder that belongs to NF family. The mutation of SMARCB1 gene has been related to this entity and Coffin-Siris syndrome, as well. We reported a case of a female patient with SMARCB1 mutation who has developed a spontaneuous spleen rupture. CASE DESCRIPTION: A 28 years old female patient with a story of a Sjogren syndrome, celiac disease and a surgically treated schwannoma, presented to our observation in July 2013 for a pain on the left elbow, where a tumefation was present. After neuroradiological evaluations, a surgical resection was performed and a schwannoma was diagnosed. Genetic exams revealed a puntiform SMARCB1 gene mutation. During 2015, she was subdued to the removal of an another schwannoma located into the cervical medullary canal. Few months later, she was operated in an another hospital for a spontaneous spleen rupture in a possible context of wandering spleen. CONCLUSION: We think that the patient could suffer from a partially expressed Coffin-Siris syndrome. No cases of spontaneous rupture in a context of wandering spleen have been ever described as for as schwannomatosis or Coffin-Siris syndrome are concerned. More cases are necessary to establish a direct relationship. Elsevier 2018-11-27 /pmc/articles/PMC6277249/ /pubmed/30555950 http://dx.doi.org/10.1016/j.ensci.2018.11.021 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 Bellantoni, G. Guerrini, F. Del Maestro, M. Galzio, R. Luzzi, S. Simple schwannomatosis or an incomplete Coffin-Siris? Report of a particular case |
title | Simple schwannomatosis or an incomplete Coffin-Siris? Report of a particular case |
title_full | Simple schwannomatosis or an incomplete Coffin-Siris? Report of a particular case |
title_fullStr | Simple schwannomatosis or an incomplete Coffin-Siris? Report of a particular case |
title_full_unstemmed | Simple schwannomatosis or an incomplete Coffin-Siris? Report of a particular case |
title_short | Simple schwannomatosis or an incomplete Coffin-Siris? Report of a particular case |
title_sort | simple schwannomatosis or an incomplete coffin-siris? report of a particular case |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277249/ https://www.ncbi.nlm.nih.gov/pubmed/30555950 http://dx.doi.org/10.1016/j.ensci.2018.11.021 |
work_keys_str_mv | AT bellantonig simpleschwannomatosisoranincompletecoffinsirisreportofaparticularcase AT guerrinif simpleschwannomatosisoranincompletecoffinsirisreportofaparticularcase AT delmaestrom simpleschwannomatosisoranincompletecoffinsirisreportofaparticularcase AT galzior simpleschwannomatosisoranincompletecoffinsirisreportofaparticularcase AT luzzis simpleschwannomatosisoranincompletecoffinsirisreportofaparticularcase |