scholarly journals A novel PDCD10 gene mutation in cerebral cavernous malformations: a case report and review of the literature

2019 ◽  
Vol Volume 12 ◽  
pp. 1127-1132 ◽  
Author(s):  
Weiwei Yu ◽  
Haiqiang Jin ◽  
Qian You ◽  
Ding Nan ◽  
Yining Huang
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Cerebral Cavernous Malformations ◽  
Review Of The Literature ◽  
Cavernous Malformations

scholarly journals Sertoli-Leydig Cell Tumour and DICER1 Mutation: A Case Report and Review of the Literature

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
B. Wormald ◽  
S. Elorbany ◽  
H. Hanson ◽  
J. W. Williams ◽  
S. Heenan ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Leydig Cell ◽  
Autosomal Dominant ◽  
Review Of The Literature ◽  
Autosomal Dominant Fashion ◽  
Rare Tumours ◽  
Leydig Cell Tumour ◽  
Underlying Pathology ◽  
Leydig Cell Tumours

Sertoli-Leydig cell tumours of the ovary (SLCT) are rare tumours predominantly caused by mutations in the DICER1 gene. We present a patient with a unilateral SLCT who had an underlying germline DICER1 gene mutation. We discuss the underlying pathology, risks, and screening opportunities available to those with a mutation in this gene as SLCT is only one of a multitude of other tumours encompassing DICER1 syndrome. The condition is inherited in an autosomal dominant fashion. As such, genetic counselling is a key component of the management of women with SLCT.

Adult giant cerebellar cavernous malformations: case report and review of the literature

2021 ◽  
pp. 1-6
Author(s):  
Rodrigo Inácio Pongeluppi ◽  
Stephanie Naomi Funo de Souza ◽  
Luciano Neder ◽  
Luciano Furlanetti ◽  
Benedicto Oscar Colli ◽  
...  
Keyword(s):  
Case Report ◽  
Review Of The Literature ◽  
Cavernous Malformations

An Intriguing Co-Existence: Atrial Myxoma and Cerebral Cavernous Malformations: Case Report and Review of Literature

2011 ◽  
Vol 24 (1) ◽  
pp. 110.e1-110.e4 ◽  
Author(s):  
Shikha Sharma ◽  
Daniel Tsyvine ◽  
Pierre D. Maldjian ◽  
Justin T. Sambol ◽  
Constantinos J. Lovoulos ◽  
...  
Keyword(s):  
Case Report ◽  
Atrial Myxoma ◽  
Cerebral Cavernous Malformations ◽  
Review Of Literature ◽  
Cavernous Malformations

scholarly journals De novo formation of cerebral cavernous malformation adjacent to existing developmental venous anomaly – an effect of change in venous pressure associated with management of a complex dural arterio-venous fistula

2016 ◽  
Vol 29 (6) ◽  
pp. 458-464 ◽  
Author(s):  
Hariprakash Chakravarthy ◽  
Tzu-Kang Lin ◽  
Yao-Liang Chen ◽  
Yi-Ming Wu ◽  
Chin-Hua Yeh ◽  
...  
Keyword(s):  
Case Report ◽  
Temporal Lobe ◽  
De Novo ◽  
Venous Pressure ◽  
Cerebral Cavernous Malformations ◽  
Developmental Venous Anomaly ◽  
Venous Anomaly ◽  
Cavernous Malformations ◽  
Developmental Venous Anomalies ◽  
Venous Fistula

This is a case report of de novo development of two cerebral cavernous malformations adjacent to existing developmental venous anomalies. The development of cavernomas was noted over a follow-up period of 10 years. These developments happened during the course of staged endovascular management of a complex dural arterio-venous fistula along the right sphenoid wing. The patient presented with a proptosis secondary to lympho-haemangiomatous lesion of the fronto-orbital region and a high-flow right sphenoid wing dural arterio-venous fistula. During the initial period of conservative management of the dural arterio-venous fistula, he developed de novo cavernous malformations in the left mesial temporal lobe adjacent to a developmental venous anomaly in the temporal lobe, and along with this there was engorgement of deep veins related to another existing developmental venous anomaly in the brainstem. Later during the course of endovascular treatment of the dural arterio-venous fistula, a large brainstem cavernoma developed adjacent to the brainstem developmental venous anomaly. This case report discusses the cause-effect relationship of venous pressure changes related to management of dural arterio-venous fistula and de novo formation of cerebral cavernous malformations adjacent to existing developmental venous anomalies.

Giant Cavernous Malformations in Childhood: A Case Report and Review of the Literature

2016 ◽  
Vol 52 (1) ◽  
pp. 30-35 ◽  
Author(s):  
Kerem Mazhar Ozsoy ◽  
Kadir Oktay ◽  
Yurdal Gezercan ◽  
Nuri Eralp Cetinalp ◽  
Semih Kivanc Olguner ◽  
...  
Keyword(s):  
Case Report ◽  
Review Of The Literature ◽  
Cavernous Malformations
Sign in / Sign up

Export Citation Format

Share Document