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Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | CADASIL | 6A0 Case 6 History
Case 6 History ---- This patient was a 67-year-old woman who died suddenly on 12/2005 at a residential care center. Her past medical history is significant for multiple cerebral infarcts, left occipital intraparenchymal hemorrhage, dementia, epilepsy, breast cancer, diabetes mellitus, and depression. At approximately 59 years of age, she experienced an episode of slurred speech. Evaluation at that time included a brain MRI, which revealed periventricular white matter changes in excess of that expected. Evaluation by a neurologist in 1998 was significant for evidence of early cognitive decline. At follow up in 2000, the patient’s family was concerned about poor memory. She scored 22/30 on the Mini Mental Status Exam, and a trial of Aricept was initiated. Cognitive decline and personality changes continued and the Aricept was discontinued. In 7/2000, the patient experienced a right subcortical cerebral infarction, as evidenced by left sided weakness and concordant changes on brain MRI. At some point after this, she began having seizures and was treated with antiepileptic medications. In 4/2002 she had a left occipital intraparenchymal hemorrhage. Also at that time a breast mass was discovered. She was diagnosed with breast cancer and treated with chemotherapy. She was given the clinical diagnosis of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL). This was made on the basis of the patient’s clinical history, brain MRIs, and the family history of dementia in her mother and multiple cerebral infarcts in her sister. A skin biopsy obtained on 4/16/2002 showed no histopathologic or ultrastructural abnormality. Her dementia progressed, with significant personality changes and emotional lability. She was placed in a residential care facility where she continued to experience intermittent seizures. In 11/2005, she was diagnosed with a deep venous thrombosis of the right leg. An inferior vena cava filter was placed and oral anticoagulation initiated. Her most recent brain MRI in 11/2005 revealed diffuse cerebral atrophy, confluent white matter changes in bilateral cerebral hemispheres extending into the brainstem, and multiple bilateral lacunar infarctions. The patient subsequently found in bed with no blood pressure, pulse, or respirations.
