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Washington University Experience | NEURODEGENERATION | Huntington Disease | 12A0 Case 12 History
Case 12 History The patient was a 61yo female with Huntington's disease, confirmed by genetic testing, who expired in February 2000 as a result of sepsis following recent left hip surgery. The patient had presented initially at age 59 with a change in her behavior. She was noted to have frequent crying spells and episodes of confusion. Within a few months, she began having some jerking of her extremities which responded to treatment with Clonazepam. Her mental status continued to deteriorate and in May 1999 she began having more prominent visual auditory hallucinations, as well as postural instability with frequent falls. By September 1999, her falling had become more frequent and her cognition was rapidly declining with progressive incoherence of her speech. She had had several hospitalizations in 1999 for both psychiatric reasons as well as dehydration with electrolyte abnormalities. She was evaluated by the MDC in Washington University in November 1999. At that time that she was on Haloperidol, Peroxitine, and Clonazepam. Her family history was notable for Huntington's disease in her mother and four of her six siblings, including one brother who had tested positive for the gene. Her mental status examination was notable for lethargy and disorientation. Cranial nerve testing revealed slowing in saccade velocity. Motor examination revealed mild to moderate rigidity in her neck and upper extremities as well as dyskinesias of her face and mouth predominantly. There were occasional choreiform movements in her upper extremities bilaterally. She had brisk reflexes throughout and an upgoing toe on the left. Coordination testing revealed no tremor but bradykinesia was noted in both upper extremities. She had prominent postural instability. The patient had a CT scan of her head which was unremarkable. She had a lumbar puncture suggestive of a traumatic tap that was followed up with a negative cerebral angiogram. Genetic testing for Huntington's disease was positive with an expansion of the IT15 gene containing 43 CAG repeats (26 or less is normal). The patient was then switched from Haloperidol to Quetiapine which led to some improvement in her gait as well as her level of arousal and thinking. She still needed minor to moderate assistance with most activities of daily living. She subsequently had another fall at her nursing home and underwent open reduction and internal fixation surgery for a left femoral neck fracture in January 2000. Post-operatively, she became hypotensive and developed a prominent normal anion gap metabolic acidosis with an associated lactic acidosis. She was treated for presumed sepsis but developed persistent hypotension requiring pressors and hyperglycemia requiring an insulin drip. She was maintained on antibiotics but no organism was identified on cultures. She developed a coagulopathy and hepatitis presumed to be ischemic in etiology. Given her poor prognosis and evidence of multi-system organ failure, the patient was treated with comfort measures only and expired in early February 2000. ---- At autopsy the weight of the unfixed brain was 1210g.
