Clinical Geriatrics

CASE PRESENTATION
Mr. D, a 51-year-old married male, accompanied by his wife and two teenage children, comes to the office of Dr. H, an internist and primary care physician. Mr. D has not seen a physician in over 10 years. Mrs. D describes a 3-month history of “strange behavior” by her husband, including getting up in the middle of the night and going to his office and eating meals at odd hours (eg, insisting it is dinnertime in the morning). He has been forgetful, calls his two children by a variety of different names, and last week was found banging on his neighbor’s door, insisting it was his house. Mr. D was able to perform his job as the manager of a grocery store, but in the past month his ability to write and fill out forms has deteriorated. Mrs. D reports that her husband always took pride in his appearance but now only wears t-shirts and sweatpants. In the past week, the family has taken turns staying awake to prevent Mr. D from wandering out at night. His 16-year-old daughter and 18-year-old son are very devoted to their father. Mrs. D explains that her husband was always very involved with his children, but recently has acted as though they were strangers. She describes Mr. D staring at people as if he does not see them. The family has noted a few episodes when Mr. D was found looking “glassy eyed” but seemed to respond when they touched him. They tried to get Mr. D to see a physician several weeks ago, but he refused. The family was able to convince him to come after his son pretended to feel sick and needed to visit the doctor.

Dr. H finds Mr. D to be alert, well nourished, and well developed. His physical examination is unremarkable; however, his gait appears wide-based, with a stooped posture. Mr. D appears rather perplexed when asked questions. During the evaluation, he displays a period of staring, with a prominent tremor noted in his left hand. After a few minutes, Mr. D appears drowsy and lays down on the examination table. Dr. H consults a neurologist, who advises sending Mr. D to the hospital for an emergency computed tomography (CT) scan of the brain.

Mr. D becomes combative in the emergency room. He is placed in restraints and given several doses of haloperidol 5 mg and lorazepam 2 mg by intramuscular injection. A head CT scan is performed, with the initial results reported as negative. Mr. D undergoes a lumbar puncture. An electrocephalogram (EEG) is performed, with significant abnormal findings. Phenytoin 1000 mg is given intravenously. He remains lethargic and confused, and is admitted to the neurology service for further evaluation of his change in mental status. A sample of spinal fluid is sent to a reference laboratory to test for neuronal proteins. His wife is counseled regarding brain biopsy as a diagnostic procedure. A great deal of tension develops between Mr. D’s son, who tries to take his father for walks, and the hospital staff, who are instructed to keep him in bed. The family appears overwhelmed and asks if Mr. D can be discharged home.

DISCUSSION
Creutzfeldt-Jakob disease (CJD) is the most common form of a group of rapidly progressive dementias caused by proteins known as prions. The disease was first described in Austria in 1920 and 1921 by the two physicians for whom the disease is now named. They identified the characteristic clinical features of the disease, including dementia, myoclonus, and seizures, with death occurring within 6 months of onset.1

Prions aggregate in the central nervous system (CNS) tissues, producing fibrillary particles in the brain tissue that result in characteristic spongiform changes associated with neuronal death.