Cavernomas are rare cerebrovascular malformations that usually occur in sporadic forms with solitary lesions located most often in the hemispheric white matter, but also in the infratentorial or spinal region. Multiple lesions at different CNS levels are
Florian Antonescu +5 more
doaj +1 more source
Medical monitoring of patient with cavernous hemangioma of the retina and intracranial involvement
Purpose: To describe a case report of Cavernous Hemangioma of the Retina (CHR) and highlight the importance of investigating intracranial system when retinal vascular alterations are present.
Laís Yumi Sakano +2 more
doaj +1 more source
Novel Development of a Large Cerebral Cavernous Malformation in an Adolescent With a History of Familial Cerebral Cavernous Malformation Syndrome. [PDF]
Cerebral cavernous malformations (CCM) are capillary vascular malformations of the central nervous system (CNS). These lesions can be either familial or sporadic. We present a case of a 16-year-old girl with familial CCM syndrome who presented with a six-month history of chronic headaches.
McIntosh MG, Hayes LL.
europepmc +3 more sources
A Novel CCM2 Gene Mutation Associated with Familial Cerebral Cavernous Malformation. [PDF]
Background: Cerebral cavernous malformations (CCMs) are common vascular malformations that predominantly arise in the central nervous system and are mainly characterized by enlarged vascular cavities without intervening brain parenchyma. Familial CCMs (FCCMs) is inherited in an autosomal dominant pattern with incomplete penetrance and variable symptoms.
Huang WQ +8 more
europepmc +5 more sources
A novel CCM2 variant in a family with non-progressive cognitive complaints and cerebral microbleeds [PDF]
Lobar cerebral microbleeds are most often sporadic and associated with Alzheimer's disease. The aim of our study was to identify the underlying genetic defect in a family with cognitive complaints and multiple lobar microbleeds and a positive family ...
Barkhof, F. (Frederik) +9 more
core +4 more sources
Molecular genetics of familial cerebral cavernous malformations [PDF]
✓Cerebral cavernous malformations (CMs) are angiographically occult neurovascular lesions that consist of enlarged vascular channels without intervening normal parenchyma. Cavernous malformations can occur as sporadic or auto-somal-dominant inherited conditions.
Shervin R, Dashti +3 more
openaire +2 more sources
Susceptibility-weighted imaging in familial cerebral cavernous malformations [PDF]
A 59-year-old man with a family history of cerebral cavernous malformations (CCM) presented with focal seizures. T2*-weighted gradient echo (GRE) images showed multiple lesions consistent with cavernous malformations (figure 1). Susceptibility-weighted images (SWI) detected nearly triple the number of lesions than were seen with the GRE sequence ...
Alex D, Cooper +2 more
openaire +2 more sources
Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations. [PDF]
PurposeThe phenotypic manifestations of cerebral cavernous malformation disease caused by rare PDCD10 mutations have not been systematically examined, and a mechanistic link to Rho kinase-mediated hyperpermeability, a potential therapeutic target, has ...
Akers, Amy L +16 more
core +2 more sources
OBJECTIVE: Multiple cerebral cavernous malformation (CCM) is the hallmark of familial presentation of cavernous malformation in the brain. We describe an ongoing Familial Cerebral Cavernous Malformation Project in the Rio de Janeiro state showing genetic
Flávio Domingues +7 more
doaj +1 more source
Discovery of familial cerebral cavernous malformation in a Saudi population. [PDF]
Familial cerebral cavernous malformation is a rare entity. It has been described commonly among the Hispanic population and sparsely among the Italian, French, Swedish and Chinese populations. We discovered two families with this condition among the Saudi population for the first time.
Nahrir S +3 more
europepmc +4 more sources

