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Sporadic Fatal Insomnia Masquerading as a Paraneoplastic Cerebellar Syndrome
Lahar R. Mehta, MD;
Brent J. Huddleston, MD;
Elaine J. Skalabrin, MD;
James B. Burns, MD;
Wen-Quan Zou, MD, PhD;
Pierluigi Gambetti, MD;
Steven S. Chin, MD, PhD
Arch Neurol. 2008;65(7):971-973.
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 (PrPSc), 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.
Author Affiliations: Department of Neurology, University of Rochester Medical Center, Rochester, New York (Dr Mehta); Departments of Pathology (Drs Huddleston and Chin) and Neurology (Drs Skalabrin, Burns, and Chin), University of Utah, Salt Lake City; and Department of Pathology, Case Western Reserve University and National Prion Disease Pathology Surveillance Center, Cleveland, Ohio (Drs Zou and Gambetti).
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