A Spinal Cavernous Malformation in Multiple Cerebral Cavernous Venous Malformations Syndrome
Teaching Point: In patients with familial multiple cavernous malformation syndrome with acute focal neurological deficit, a symptomatic spinal cavernous malformation must be included in the differential diagnosis.
Guillaume Vangrinsven +2 more
doaj +5 more sources
Cerebral cavernous malformations: The importance of cutaneous manifestations
Igor Vazquez-Osorio +4 more
doaj +4 more sources
Familial Cerebral Cavernous Malformations: Pathophysiology, Genetics, Biomarkers, and Treatment Perspectives. [PDF]
Cerebral cavernous malformations (CCMs) are vascular lesions in the brain caused by inherited genetic mutations in the CCM1/2/3 genes that disrupt normal blood vessel function. This work demonstrates that these mutations lead to endothelial dysfunction, inflammation, and iron accumulation, which can be detected by magnetic resonance imaging (MRI) and ...
Fontes-Dantas FL +5 more
europepmc +2 more sources
Cerebral cavernous malformations and epilepsy [PDF]
✓Seizures and epilepsy are frequent clinical manifestations of cerebral cavernous malformations (CCMs) and represent the most common symptomatic presentation of supratentorial lesions. Clinicians often diagnose CCMs in patients after a first seizure, or in some cases after obtaining neuroimaging studies in patients suffering from chronic epilepsy ...
Issam, Awad, Pascal, Jabbour
openaire +2 more sources
Mitral valve plasty in a patient with multiple cerebral cavernous malformations: A case report
Cerebral cavernous malformations (CCMs) are blood vessel malformations, often untreated if asymptomatic. However, upon cardiac surgery with cardiopulmonary bypass, cerebral edema/hemorrhage may occur.
Shigeyuki Yamashita +6 more
doaj +1 more source
Rigid endoscopic surgery of brainstem cavernous malformation on the cerebral aqueduct. Case report
Cavernous angiomas (malformations) of the brain occur in 0.5% of the population. Most of them are asymptomatic, but due to their anatomical features, namely escape of blood into surrounding tissues, significant neurological symptoms can occur.
Orest I. Palamar +4 more
doaj +1 more source
Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene [PDF]
Background Cerebral cavernous malformations (CCM) present as either sporadic or autosomal dominant conditions with incomplete penetrance of symptoms. Differences in genetic and environmental factors might be minimized among first-degree relatives.
Miguel Lucas +18 more
core +3 more sources
Familial multiple cavernous malformation syndrome : MR features in this uncommon but silent threat [PDF]
Cerebral cavernous malformations (CCM) are vascular malformations in the brain and spinal cord. The familial form of cerebral cavernous malformation (FCCM) is uncommon.
Lemmerling, Marc +2 more
core +3 more sources
Asymptomatic Familial Multiple Cerebral Cavernous Malformation in a 73-Year-Old Woman
Cerebral cavernous malformations (CCMs) are dilated blood vessels which can develop sporadically or in familial form and are the commonest malformations of blood vessels in the spinal cord and brain.
Klenam Dzefi-Tettey +4 more
doaj +1 more source
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

