De Novo Development of a Cavernous Malformation of the Brain: Significance of Factors with Paracrine and Endocrine Activity: Case Report

Neurosurgery ◽  
2002 ◽  
Vol 50 (3) ◽  
pp. 646-650 ◽  
Author(s):  
Wolf Lüdemann ◽  
Verena Ellerkamp ◽  
Alexandru C. Stan ◽  
Sami Hussein
Keyword(s):  
Case Report ◽  
De Novo ◽  
Cavernous Malformation ◽  
Endocrine Activity ◽  
The Brain

De Novo Development of a Cavernous Malformation of the Brain: Significance of Factors with Paracrine and Endocrine Activity: Case Report

Neurosurgery ◽  
2002 ◽  
Vol 50 (3) ◽  
pp. 646-650 ◽  
Author(s):  
Wolf Lüdemann ◽  
Verena Ellerkamp ◽  
Alexandru C. Stan ◽  
Sami Hussein
Keyword(s):  
Hormone Receptors ◽  
De Novo ◽  
Cavernous Malformation ◽  
Pituitary Hormones ◽  
Surrounding Tissue ◽  
Endocrine Activity ◽  
Cavernous Malformations ◽  
Computed Tomographic ◽  
The Right ◽  
The Brain

Abstract OBJECTIVE AND IMPORTANCE: De novo development of cavernous malformations is poorly documented in the literature. CLINICAL PRESENTATION: We report the case of a 37-year old woman with de novo growth of a cavernous malformation of the brain. The patient presented with a 12-month history of nonspecific headaches and paresthesias after two pregnancies. After computed tomographic scanning of the cranium, a cavernous malformation located parieto-occipitally within the right brain hemisphere was diagnosed. Control magnetic resonance imaging scans obtained 12 years earlier did not reveal a similar lesion. INTERVENTION: Surgery was performed, and the specimen was analyzed histopathologically. CONCLUSION: Immunohistochemistry demonstrated lack of expression of pituitary hormones as well as of androgen, estrogen, and progesterone hormone receptors. However, strong expression of both basic fibroblast growth factor and CD44 was detected in surrounding tissue, and expression of CD44 was noted within the matrix of the cavernous malformation.

scholarly journals Postnatal delayed exacerbation of dural sinus malformation associated with brainstem cavernous malformations: A case report

2017 ◽  
Vol 23 (5) ◽  
pp. 510-515 ◽  
Author(s):  
Katsuhiro Mizutani ◽  
Tomoru Miwa ◽  
Takenori Akiyama ◽  
Tokunori Kanazawa ◽  
Hideaki Nagashima ◽  
...  
Keyword(s):  
Case Report ◽  
Vascular Malformation ◽  
De Novo ◽  
Clinical Course ◽  
Cavernous Malformation ◽  
Venous Hypertension ◽  
Dural Sinus ◽  
Cavernous Malformations ◽  
Dural Sinus Malformation ◽  
Brainstem Cavernous Malformation

Dural sinus malformation (DSM) is a rare paediatric vascular malformation characterised by abnormal dilation of the posterior dural sinus. Owing to its rarity, the pathophysiology of DSM has not been fully elucidated. We report a case of prenatally diagnosed DSM with an unusual clinical course. We detected DSM in a male foetus in the 26th week of gestation by using foetal ultrasonography. Although the DSM regressed during the foetal stage and the arteriovenous shunt was insignificant in the neonate, the shunt rapidly developed four months after birth. The neonate also had postnatal de novo brainstem cavernous malformation (CM), which also developed rapidly, supposedly due to the aggravated venous hypertension resulting from the DSM. We successfully treated the aggravated shunts by endovascular transarterial and transvenous embolisation six times over two years and, subsequently, the clinical condition and the size of the brainstem CM became stable. The DSM and CM seemed to have a metameric origin. Such aberrant cases could help to further the understanding of DSM.

scholarly journals Leukoencephalopathia, demyelinating peripheral neuropathy and dural ectasia explained by a not formerly described de novo mutation in the SAMD9L gene, ends 27 years of investigations – A case report

2019 ◽  
Author(s):  
Sofia Thunström ◽  
Markus Axelsson
Keyword(s):  
Case Report ◽  
De Novo ◽  
Age Of Onset ◽  
De Novo Mutation ◽  
Missense Mutations ◽  
Case Presentation ◽  
Whole Exome ◽  
Demyelinating Peripheral Neuropathy ◽  
The Brain ◽  
Multiple Cysts

Abstract Background: Missense mutations in SAMD9L gene is associated with ataxia-pancytopenia syndrome (ATXPC), OMIM#159550. Common clinical features in these patients include neurological and hematological symptoms. The phenotype and age of onset is variable. Case presentation: In this case report whole exome sequencing (WES) revealed a not previously reported de novo variant c.2686T>G, p.(Phe896Val) in SAMD9L in a patient with widespread findings of slow developing pathology in the peripheral and central nervous system. The clinical picture was dominated by neurological symptoms, unlike previously described cases, and in addition dural ectasias and multiple cysts in the brain was observed using magnetic resonance imaging. Conclusions: This case underscores the effect of variable expressivity, i.e. different mutations in the same gene can cause different phenotypes.

De Novo Formation of Cerebral Cavernous Malformation in a Patient with Intractable Epilepsy: Case Report and Review

2009 ◽  
Vol 20 (3) ◽  
pp. 302-306 ◽  
Author(s):  
Mustafa Efkan Colpan ◽  
Levent Uckardesler ◽  
Zeki Sekerci ◽  
Konstantin Slavin
Keyword(s):  
Case Report ◽  
De Novo ◽  
Cavernous Malformation ◽  
Intractable Epilepsy ◽  
Cerebral Cavernous Malformation

De novo appearance of cerebellar cavernous malformation in a patient with moyamoya disease: Case report and review of the literature

2007 ◽  
Vol 109 (8) ◽  
pp. 708-712 ◽  
Author(s):  
Kojiro Korematsu ◽  
Susumu Yoshioka ◽  
Takashi Maruyama ◽  
Yasuyuki Nagai ◽  
Ko-Ichi Tsuji ◽  
...  
Keyword(s):  
Case Report ◽  
Moyamoya Disease ◽  
De Novo ◽  
Cavernous Malformation ◽  
Review Of The Literature ◽  
Disease Case
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