NR AVTU
AU Thomas,A.V.; Klein,J.C.; Brockhaus-Dumke,A.; Heiss,W.D.; Jacobs,A.H.; Petereit,H.F.
TI [Fatal familial insomnia: case presentation and discussion of typical clinical and imaging findings]
OT Fatale familiäre Insomnie: Kasuistik zur Darstellung der klinischen und bildgebenden Befunde.
QU Der Nervenarzt 2006 Jun; 77(6): 711-5
PT case reports; english abstract; journal article
AB Fatal familial insomnia (FFI) is a hereditary prion disease caused by a mutation in codon 178 of the prion protein gene PRNP on chromosome 20. It is characterized by disturbed night sleep, resulting in daily vigilance perturbations and a variety of other neurological symptoms. We present the case of a 46-year-old woman deteriorating despite immunosuppressive treatment which was initiated suspecting cerebral vasculitis as the cause of her progressive neurological symptoms. The correct diagnosis was established only post mortem. Based on the case presented here, we discuss typical clinical symptoms and imaging findings. In particular, we outline how modern diagnostic methods such as positron emission tomography with [(15)O]H(2)O and [(18)F]FDG and single photon emission computed tomography can add valuable information to results from conventionally performed imaging techniques and genetic testing.
MH Fatal Outcome; Female; Fluorodeoxyglucose F18/*diagnostic use; Humans; Immunosuppressive Agents/*therapeutic use; Insomnia, Fatal Familial/*diagnosis/*drug therapy; Middle Aged; Oxygen Radioisotopes/diagnostic use; Positron-Emission Tomography/*methods; Radiopharmaceuticals/diagnostic use; Tomography, Emission-Computed, Single-Photon/*methods; Water/*diagnostic use
AD Max Planck Institut für neurologische Forschung, Köln.
SP deutsch
PO Deutschland