A 16 April 2009 New England Journal of Medicine case described a 46-year-old man with migraine, aphasia, and hemiparesis and similarly affected family members :
The patient had been well, except for migraine headaches, until 4 years earlier, when right-sided weakness, clumsiness, and slurred speech developed during a period of 24 hours. A neurologist at another hospital found dysarthria and right central facial weakness; decreased muscle tone in the right arm, with strength 4+/5; and normal muscle tone in the right leg, with strength 4+/5. Strength on the left side was normal, with slightly increased tone in the left arm and normal tone in the left leg. Reflexes were brisker on the right side than on the left, with an extensor plantar response on the right and a flexor plantar response on the left. Computed tomography (CT) of the brain after the administration of contrast material showed numerous nonenhancing, hypodense lesions in the bilateral basal ganglia and deep white matter.
He developed dysphagia, and symptoms worsened with recurrent exacerbations and worsening seen on MRI scans. He was treated with interferon beta-1a and steroids and seen at Massachusetts General Hospital for a fifth opinion. Two brothers had similar symptoms and carried a diagnosis of multiple sclerosis. A variety of lab tests were normal or inconclusive, including the absence of CSF oligoclonal bands.
Click here to see the result in SimulConsult Diagnostic Decision Support with the findings described above, as well as the pertient negatives mentioned in the article. The correct diagnosis, CADASIL, is the overwhelming favorite, and multiple sclerosis and CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy) are distant #2 and #3 possibilities.
Registration is required to click into the software because access to the software is restricted for legal reasons to medical professionals and students.
If you know of interesting cases in the news, in journals or on open Web sites of hospitals or foundations, please contact us and include enough information for us to find the material. The differential diagnosis will change over time as people mull over the case and submit new information to the database about findings in the relevant diseases.