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.
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*
Birth defects, particularly those of the blood vessels, account for the majority of infant deaths, especially after the first week of life. Congenital heart disease (CHD) — meaning defects of the heart – is responsible for one-third of deaths between birth and the first year of life. Therefore, the diagnosis of CHD is critical in order to plan life-saving treatments, such as the proper place for the delivery, the type of delivery, and its timing. If it’s known in advance that an unborn baby has a heart problem and is delivered in a hospital that provides special care, its survival and future health will increase dramatically.
Who’s at risk for having CHD and which expectant moms should have further evaluation? Families who have a history of CHD — especially mothers, fathers, and siblings — should receive genetic counseling. Multiple medical studies over the past fifteen years have demonstrated the significance of genetics as a main culprit of CHD. Parents of a child with CHD have a two percent to three percent chance of having another affected child. If a mother or father has CHD, a fetal cardiac echo (an ultrasound of the heart) is definitely warranted.
Because the treatment of CHD in many cases is surgical, there’s an increasing number of patients who have survived into adulthood and have ultimately become parents. Research has documented that 4.1 percent of their children will have CHD. Children with mothers who have CHD are at a greater risk of inheriting the disease than if they have fathers with CHD. Mothers with cyanotic heart disease — that is, blood that is without oxygen that bypasses the lungs and goes directly to the blood vessels — also have a greater risk of having a baby with CHD. Read more »
The first week of January was full of news reports of giving advice on your new diet and exercise program to help you lose the weight you’ve always wanted to. In a previous post and video I talk about some do’s and don’ts when planning for your weight loss New Year’s resolution.
In the video below, I talk about some medical issues to keep in mind before starting your program. For example, do you have a family history of medical problems like high blood pressure or diabetes? If so, you may want to schedule an appointment with your personal physician before jumping on the diet and exercise bandwagon.
If you find this video helpful, I invite you to check out other TV interviews at MikeSevilla.TV. Enjoy!
The Associated Press ran a provocatively-titled piece recently, “Family health history: ‘best kept secret’ in care”, which noted how a geneticist at the Cleveland Clinic discovered that asking about family members and their history of breast, colon, or prostate cancer was better than simply doing genetic blood testing.
Surprising? Hardly. This is what all medical students are taught. Talk to the patient. Get a detailed history and physical. Lab work and imaging studies are merely tools that can help support or refute a diagnosis. They provide a piece of the puzzle, but always must be considered in the full context of a patient. They alone do not provide the truth. Read more »
Dr. Mehmet Oz just might be the last person on earth people would expect to get a colon polyp. He’s physically fit (he left me in the dust the last time we ran together), he eats a healthy diet, he doesn’t smoke, and he has no family history of colorectal cancer or colon polyps.
But several weeks ago, when Mehmet had his first screening colonoscopy at age 50, I removed a small adenomatous polyp that had the potential to turn into cancer over time. Statistically, most small polyps like his don’t become cancer. But almost all colon cancers begin as benign polyps that gradually become malignant over about 10 to 15 years.
Since there’s no way of knowing which polyps will turn bad, we take them all out. The good news is there’s plenty of opportunity to prevent cancer by removing these polyps while they are still benign. But only about 63 percent of Americans between ages 50 and 75 get screened for colorectal cancer. Read more »
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