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Washington University Experience | NEURODEGENERATION | Pick Disease | 11A0 Case 11 History
Case 11 History ---- The decedent was a 68-year-old man with a history of progressive cognitive decline, congenital 4th cranial nerve palsy with diplopia, seizure disorder (managed with Depakote), prostate cancer (status post radiation therapy with rectal bleeding managed with cauterization), and hyperlipidemia. His cognitive decline began in 2020, with a mini mental status examination (MMSE) score of 23 and initial imaging showing hippocampal atrophy. Subsequent genetic testing showed a homozygous APOE4/4 genotype consistent with Alzheimer disease. Subsequent testing showed decreased MMSE score of 15. PrecivityAD2 testing was initially (2022) equivocal, but further AD2 plasma biomarker testing in 2023 was positive for amyloid pathology. The decedent presented to an outside emergency room in July 2025 for a suspected fall in the context of agitation and urinary incontinence. CT of the head and cervical spine showed communicating hydrocephalus with adjacent periventricular changes suspicious for transependymal edema, and chronic white matter ischemia. He was treated with antibiotics for a urinary tract infection and discharged with recommendations to follow-up with neurology. He presented to the BJH ED in 8/2025 with a severe headache. CT imaging of the head demonstrated moderate global brain volume loss with ex vacuo ventricular dilatation and scattered nonspecific periventricular and deep white matter changes, with a clinical suspicion for normal pressure hydrocephalus. MRI of the brain showed that his prior ventriculomegaly had increased in size. A high-volume lumbar puncture was performed (cerebrospinal fluid analysis was consistent with Alzheimer disease) but did not resolve his symptoms. He was also found to have two dental abscesses which were suspected to be the chief underlying cause of his severe pain. He was discharged from the ED with instructions to follow up with Neurology. Per documentation provided prior to autopsy, he died in 12/2025 with the autopsy performed later that day.
