Fatal Familial Insomnia (FFI) Complicated by Posterior Reversible Encephalopathy Syndrome (PRES)

Excerpt

The descriptive term posterior reversible encephalopathy syndrome (PRES) represents a clinical-radiological syndrome which appears mostly in the context of an acute increase in blood pressure or in connection with the taking of immunosuppressive medication. Clinically it is marked by headaches, impairment of consciousness, visual impairment, and epileptic seizures. Radiologically can be proved symmetric most frequently parietooccipitale vasogenic edema [1], which are usually reversible within days till weeks. We report on a 44-year-old woman with fatal familial insomnia which has developed a PRES syndrome within the framework of a hypertensive blood pressure with autonomous dysregulation. FFI is rare, rapidly progressive autosomal dominant inherited prion disease with typical clinical symptoms such as nocturnal ischemia daytime sleepiness, progressive dementia, hallucinations, autonomic disorder, endocrine manifestations, motoric disorder, and neuropathologic selective atrophy of anterior ventral and mediodorsal thalamic nuclei [2‐5]. The differential diagnosis included initially a Creutzfeldt Jakob disease, an encephalopathy with Hashimoto thyreoiditis, CADASIL, Morbus Whipple, or a paraneoplastic encephalopathy. Interesting in this case is the manifestation of PRES in a patient with FFI caused by the autonomic disorder. …