Simple schwannomatosis or an incomplete Coffin-Siris? Report of a particular case.
Coffin-Siris
Schwannomatosis
Sjogren
Spleen rupture
Wandering
Journal
eNeurologicalSci
ISSN: 2405-6502
Titre abrégé: eNeurologicalSci
Pays: Netherlands
ID NLM: 101667077
Informations de publication
Date de publication:
Mar 2019
Mar 2019
Historique:
received:
01
11
2018
accepted:
17
11
2018
entrez:
18
12
2018
pubmed:
18
12
2018
medline:
18
12
2018
Statut:
epublish
Résumé
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. 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. 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.
Sections du résumé
BACKGROUND
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
METHODS
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
CONCLUSIONS
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.
Identifiants
pubmed: 30555950
doi: 10.1016/j.ensci.2018.11.021
pii: S2405-6502(18)30053-4
pmc: PMC6277249
doi:
Types de publication
Case Reports
Langues
eng
Pagination
31-33Références
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