An case of CADASIL? Or something else?
I recently did a brain autopsy on a 70-year-old woman who died from an intraparenchymal brain hemorrhage after a seven-year history of progressive dementia. The gross photograph (provided by Chad Jeffers, Memorial Medical Center, Springfield, IL) follows:I know what you’re thinking: an amyloid angiopathic bleed, or perhaps a hypertensive bleed, in a patient with Alzheimer disease. That’s what I was thinking until I saw in the chart that abnormal white matter changes on MRI prompted the neurologist to order Notch3 genetic testing on the patient, which surprisingly came back positive for a mutation. The patient therefore carried a clinical diagnosis of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), despite the fact that she had no …
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