Table of Contents
Washington University Experience | PRION DISEASES | Prion Diseases | 2A0 Case 2 History
Case 2 History ---- The patient was a 60 year old woman with a history of hypertension, migraines, macular degeneration treated three years ago with laser surgery, and a three-year history of essential tremor of the head. In 08/2006, she began having insomnia and restless movements of the lower extremities (diagnosed as restless leg syndrome) treated unsuccessfully with Requip. She developed dyskinesias and paresthesias of her left arm, face, and leg. In 09/2006 declining mental status, memory changes, and reduced postural stability without loss of strength, required the use of a wheelchair. The differential diagnosis included subacute infarcts, Huntington's Disease, Wilson's Disease, and drug or HIV related symptomatology. MRI in 10/2006 showed increased T2, FLAIR, and diffusion signals in the right caudate head and lentiform nucleus without enhancement; interpreted as an early subacute lacunar infarct. She had impaired recall and memory, asymmetric Babinski reflex, left sided pronator drift, choreoathetoid movements, and postural instability. The patient continued to decline with a prominent motor component. EEG studies performed in 11/2006 revealed moderate generalized slowing and triphasic waves (as seen in metabolic, toxic or diffuse or multifocal structural abnormalities), and right hemispheric slowing (suggestive of more severe focal dysfunction). Laboratory studies including a paraneoplastic panel, tumor markers and rheumatologic studies were negative. CSF analyzed at the NPDPSC showed increased concentration of 14-3-3 protein. Her subsequent hospital course was marked by rapidly progressive dementia, myoclonic jerks, exaggerated startle reflex and increased muscle tone in the extremities. A gastrostomy tube was placed when she became unable to eat. She was discharged to a skilled nursing facility in stable condition but soon developed a urinary tract infection. At that time, she responded only to noxious stimuli, would not regard, was averbal, was globally hyporeflexic, had contractures in all four extremities, and had minimal gag reflex. She died at her nursing facility on 05/2007, 9 months from onset of her disease.
