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Stroke and Transient Ischemic Attacks of the Brain and Eye
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Cerebral cavernous malformations (CCMs) are small (1 mm to several centimeter in diameter), low-flow collections of dilated, thin-walled endothelium-lined sinusoids without muscular or elastic layers and with no intervening brain tissue; they are single or multiple, and occasionally calcified. Cavernous malformations are located in the hemispheric white matter or cortex in about one-half of all cases, in the posterior fossa (most often the brainstem) in one-third, and in the basal ganglia or thalamus in one-sixth. Exceptional locations include the ventricular system, where cavernous malformations may become extremely large; the pineal region; the cavernous sinus; the optic chiasm or other cranial nerves; and the spinal cord. Coexistence of spinal and CCMs is not uncommon. Cavernous malformations also may occur in the skin, orbit, and almost any internal organ. The lesions are not static but often grow or shrink, and can even appear de novo in sporadic cases.
How will genetics influence management of vascular malformations?
Published in Byung-Boong Lee, Peter Gloviczki, Francine Blei, Jovan N. Markovic, Vascular Malformations, 2019
Disorders such as many vascular malformations are described as a “segmental manifestation of lethal genes surviving by mosaicism” by Happel.3 That is to say that the disorders would not survive as autosomal mutations and can only persist in the mosaic condition, mixed with normal cells. Happel states that “the underlying mutation, when present in all cells of the embryo, acts as a lethal factor, resulting in early intrauterine death,” and terms these disorders “Lethal Autosomal Mutations Surviving as Segmental Mosaics, Confirmed at the Molecular Level.”3, 4 Several vascular anomalies are in this category (Sturge–Weber syndrome, CLOVES syndrome, Klippel–Trenaunay syndrome, Maffucci syndrome, Proteus syndrome, arteriovenous malformations, and others).5–10 Familial vascular anomalies also exist: hereditary hemorrhagic telangiectasia, RASA1 or EPHB4 mutation-related capillary malformation-arteriovenous malformation (AVM), PTEN hamartoma syndrome, cerebral cavernous malformations, mucocutaneous venous malformations, glomuvenous malformations, many lymphedema syndromes, and others.11–13 These mutations are summarized in Table 10.1.
Vascular tumours and malformation
Published in Brice Antao, S Irish Michael, Anthony Lander, S Rothenberg MD Steven, Succeeding in Paediatric Surgery Examinations, 2017
Cameron C Trenor III, Steven J Fishman, Arin K Greene
RASA1 mutations cause capillary malformation–arteriovenous malformation; patients have cutaneous stains and arteriovenous malformations. PTEN mutations cause lipovascular hamartomas, atypical arteriovenous malformations without capillary stains as well as frontal bossing and penile freckling. VEGFR3 mutations can result in congenital lymphoedema. Mutations in TIE2 can cause sporadic venous malformations as well as hereditary cutaneomucosal lesions. FOXC2 mutations are responsible for lymphoedema–distichiasis syndrome; patients have congenital lymphoedema and a double row of eyelashes. Glomulin mutations cause glomuvenous malformations; lesions are small, bluish and painful. Endoglin mutations result in hereditary haemorrhagic telangiectasia. Mutations in KRIT1 are responsible for cerebral cavernous malformations. SOX18 mutations cause hypotrichosis–lymphoedema–telangiectasia syndrome.
Intensive, functional training leads to optimal outcomes in a young woman post brain stem hemorrhage due to cerebral cavernous malformation
Published in Physiotherapy Theory and Practice, 2020
Kasey Thompson, Katrin Mattern-Baxter
Cerebral cavernous malformations (CCMs) can cause an intracranial hemorrhage (ICH) and account for 5–15% of all cerebral vascular malformations (Morrison and Akers, 2016). Defined as a cluster of enlarged capillary channels lacking mature cell wall elements, CCMs can occur throughout the central nervous system and are often undiagnosed until symptoms present. Genetic mutation is the only risk factor for developing a CCM and it can be either hereditary or sporadic (Morrison and Akers, 2016). Several autopsy and magnetic resonance imaging (MRI) review studies have reported the prevalence of CCM between 0.4% and 0.6% in the general population (Gross and Du, 2016; Smith and Scott, 2010). The incidence of this vascular disorder is more accurately described as a detection rate given its spontaneous course and has been reported at 0.39% in the United States (Del Curling, Kelly, Elster, and Craven, 1991).
‘You-on-a-chip’ for precision medicine
Published in Expert Review of Precision Medicine and Drug Development, 2018
Vascularization of the nervous system is incredibly important and while vascularization continues as a challenge for all bioengineered tissues [84], a number of microfluidic systems exist that have modeled the BBB [31,33,85,86]. Vascular malformations can cause organ dysfunction in any context but cerebral cavernous malformations (CCMs) and neural arteriovenous malformations (AVMs) can cause physical lesions and disrupt the BBB, causing particularly severe neurological symptoms such as epileptic fits, movement deficits, and psychiatric disorders [87,88]. Indeed, the ‘two-hit’ vascular dysfunction hypothesis [89,90] suggests a potential causal link between vascular tissue defects and neurodegeneration. This is based on evidence that metabolic disorders such as type 2 diabetes can cause vascular abnormalities and vessel hyperpermeability and are associated with an increased risk of Alzheimer’s disease in later life due to the resulting higher transport of A-beta protein across the BBB. Tissue chips that contain vascularized neural tissues with endothelial cells, pericytes, neurons, and multiple types of glia would again allow the causal study of disease-associated risks.
Emerging indications for stereotactic laser interstitial thermal therapy in pediatric neurosurgery
Published in International Journal of Hyperthermia, 2020
Madison Remick, Michael M. McDowell, Kanupriya Gupta, James Felker, Taylor J. Abel
Cerebral cavernous malformations (CCMs) are benign clusters of abnormal vasculature most often found in the brain and spinal cord [45]. Patients with cavernoma-related epilepsy (CRE) are often treated with resective surgery, however LITT has increasingly been proposed as an alternative treatment [45–48]. Retrospective cohort studies suggest that early surgical treatment of CRE with LITT is associated with higher long-term seizure freedom rates and higher rates of discontinuing anti-seizure medication as opposed to resection. Potential to offer a less invasive approach through LITT may be associated with patients and families electing to have surgical treatment for CRE earlier.