Cavernous angiomas belong to a group of intracranial vascular malformations that are developmental malformations of the vascular bed. These congenital abnormal vascular connections frequently enlarge over time. The lesions can occur on a familial basis. Patients may be asymptomatic, although they often present with headaches, seizures, or small parenchymal hemorrhages.
In most patients, cavernous angiomas are solitary and asymptomatic. In recent times, increasing MRI has detected several such asymptomatic cases and has prompted a study into the genetics and natural history of this condition.
It is now known that cavernous angiomas have a genetic basis. Familial forms of cavernous angiomas are associated with a set of genes called CCM genes (cerebral cavernous angioma). This is a case report describing the phenotypic expression of a familial form of cavernous angioma.
CASE REPORT
A 54-year-old man was referred for an MRI of the brain with complaints of headache and seizures. A cranial CT scan revealed few hyperdense lesions. A subsequent cranial MRI scan revealed several lesions with features representing cavernous angiomas.
The patient was offered counseling and was treated conservatively. Genetic testing was not possible due to the high prohibitive cost. However, screening of the family members by MRI was recommended.
Cranial MRI of the immediate family members was performed. Four brothers of the patient and his mother were found to have multiple cavernous angiomas. The father, youngest brother, and his younger sister were found not to have any such lesion. Both children of the patient were also found to be free of these lesions. Incidentally, a meningioma was found in the father of the patient. Read more »
*This blog post was originally published at AJNR Blog*
A paper published in the February issue of Health Affairs — discussed at length in an article in the New York Times — contains the sort of blunt, plain-spoken language you seldom read in academic journals. The authors, who include some of the most prominent neuroscientists and ethicists in the world, warn that manufacturers are misusing the FDA’s humanitarian device exemption to promote deep brain stimulation as a “treatment” for obsessive compulsive disorder (OCD).
In fact, they make clear that deep brain stimulation is very much an experimental procedure. Research is still at an early stage, and the risks to patients are not well defined. When suffering is severe and no other treatment has provided relief, there is value in making available an intervention like deep brain stimulation. But misleading or biased information, no matter where it comes from, certainly undermines patients’ ability to calculate benefits and risks.
To enable deep brain stimulation, a surgeon must first implant electrodes in the brain and connect them to a pair of small electrical generators underneath the collarbone. Deep brain stimulation uses electricity to affect how brain signals are transmitted in particular areas of the brain. The image to the left, from the National Institute of Mental Health, shows how deep brain stimulation depends on the implantation of pulse generators below the collarbone and electrodes in the brain.
Specific concerns are raised by the article in Health Affairs (and in our own article on this topic last year in the Harvard Mental Health Letter). Read more »
Electroconvulsive therapy (ECT) is considered to be a highly effective treatment for depression. The story goes that roughly 90 percent of patients respond. The downside is that it requires general anesthesia with all its attendant risks, and patients may suffer from headaches and memory loss. The memory loss is often mild, but there are cases where it is profound and very troubling.
As with any psychiatric treatment — or so it seems — there are those who say it saved them and those who say it destroyed them. Because the risks aren’t minor, the procedure is expensive and often done on an inpatient unit, and people generally don’t like the idea of having an IV line placed, being put under, then shocked through their brain until they seize, only to wake up groggy and perhaps disoriented with an aching head, it’s often considered to be the treatment of last resort, when all else has failed. This makes the 90 percent response rate even more powerful.
I’m no expert on ECT. I haven’t administered it since I was a resident and I don’t work with inpatients where I see people before and after. I’ve rarely recommended it, and then I’ve been met with a resounding, “NO.” My memory of it was that it worked, and that most people didn’t complain of problems. One woman read a novel during her inpatient stay. I asked if she had trouble following the plot (ECT in the morning, novel reading in the afternoon), and she said no.
The Food and Drug Administration (FDA) has been looking at the safety and efficacy of the machines used to perform ECT. It’s a fairly complex story where the FDA advisory panel was considering whether to keep ECT machines categorized as “Class III” machines, which would now require machine manufacturers to prove their efficacy and safety. A reclassification as Class II (and therefore lower risk) would not require this stringent proof. Read more »
*This blog post was originally published at Shrink Rap*
Dr. Charles Limb is an otolaryngologist, and he’s also on the faculty at the Peabody Conservatory of Music. Wanting to study creativity on the neurological level, he used fMRI to scan the brains of musicians while improvising along with them. Here he describes the experiment, including the building of an MRI-compatible electronic keyboard:
Mark Hyman, a proponent of so-called “functional medicine” promoting himself over at the Huffington Post (an online news source that essentially allows dubious medical infomercials to pass as news) has posted a particularly egregious article on personalized medicine for dementia.
In the article Hyman distorts the modern practice of medicine, the current state of genetic science, and the very notion of “disease.” It is, as usual, a fine piece of medical propaganda sure to confuse many a reader. Hyman starts with some standard epidemiology of dementia –- it’s a common and growing disorder –- but then descends quickly into distortion and pseudoscience. Read more »
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