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Sporadic fatal insomnia masquerading as a paraneoplastic cerebellar syndrome
Lahar R Mehta1, Brent J Huddleston, Elaine J Skalabrin
1Neuroimmunology Unit, Department of Neurology, University of Rochester Medical Center, 601 Elmwood Ave, Box 605, Rochester, NY 14642, USA. lahar_mehta@urmc.rochester.edu
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.
Design:
Case report describing a patient with autopsy-proven sporadic fatal insomnia.
Patient:
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.
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