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Washington University Experience | NEURODEGENERATION | Huntington Disease | 1A0 Case 1 History
Case 1 History ---- The decedent was a 49yo female with a 5-year diagnosis of Huntington disease (HD) with significant depression and progressive dementia. Her father died of HD at the age of 62; 3 of her paternal grandmother’s siblings and one of her brothers have HD. She initially developed difficulty with gait balance at the age of 44 (2006), as well as clumsiness, and consulted to obtain a diagnosis. Her Huntingtin genes have 17 and 43 CAG repeats. Since then, her chorea became progressively more prominent. She was treated with TRENDHD (ethyl-EPA) trial, methyl-phenidate and pramipexole, all of which were discontinued due to inefficacy. She had mild improvement of her HD symptoms on haloperidol. She developed personality change secondary to HD in 2007 and had a suicide attempt in 2010. On the morning in mid-July of 2012, she retreated to the basement as usual, but did not return after a prolonged period of time. Her husband, who was very supportive of the patient’s disease, found the patient to be unresponsive, holding an empty bottle of Tylenol PM. She was rushed to an OSH where attempts to treat the liver toxicity secondary to Tylenol ingestion was unsuccessful and the patient expired the next day. Autopsy found liver injury consistent with acetaminophen toxicity. ---- At autopsy the weight of the unfixed brain was 1215g.
