Sporadic fatal insomnia masquerading as a paraneoplastic cerebellar syndrome.
BACKGROUND
Sporadic fatal insomnia is a rare prion disease that has recently been recognized.


OBJECTIVE
To report a unique case of sporadic fatal insomnia in a woman with progressive cerebellar deterioration who was originally thought to have a paraneoplastic cerebellar syndrome.


METHODS
Case report describing a patient with autopsy-proven sporadic fatal insomnia.


METHODS
A 56-year-old woman with progressive cerebellar ataxia who was found to have a retroperitoneal non-Hodgkin lymphoma.


RESULTS
Autopsy demonstrated marked degenerative changes in the thalamus, cerebellum, and inferior olivary nucleus. A mild spongiform change was present in the thalamus and cortical gray matter. Western blot analysis confirmed the presence of abnormal, protease-resistant prion protein (PrP(Sc)), characteristic of sporadic fatal insomnia.


CONCLUSIONS
Clinicians should be aware of this rare prion disease and should strongly consider the importance of autopsy toward the investigation of unusual neurological diseases.
Mehta
Lahar R
LR
Neuroimmunology Unit, Department of Neurology, University of Rochester Medical Center, 601 Elmwood Ave, Box 605, Rochester, NY 14642, USA. lahar_mehta@urmc.rochester.edu
Huddleston
Brent J
BJ
Skalabrin
Elaine J
EJ
Burns
James B
JB
Zou
Wen-Quan
WQ
Gambetti
Pierluigi
P
Chin
Steven S
SS
D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D034062:Insomnia, Fatal Familial / Q000175:diagnosis* / Q000473:pathology; D008875:Middle Aged; D020362:Paraneoplastic Cerebellar Degeneration / Q000175:diagnosis* / Q000473:pathology