Sporadic fatal insomnia masquerading as a paraneoplastic cerebellar syndrome.

Abstract

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.

• Authors: Lahar R Mehta, Brent J Huddleston, Elaine J Skalabrin, James B Burns, Wen-Quan Zou, Pierluigi Gambetti, Steven S Chin
• Journal: Archives of neurology (Arch Neurol) Vol. 65 Issue 7 Pg. 971-3 (Jul 2008) ISSN: 1538-3687 [Electronic] United States
• PMID: 18625868 (Publication Type: Case Reports, Journal Article)

Topics

• Diagnosis, Differential
• Fatal Outcome
• Female
• Humans
• Insomnia, Fatal Familial (diagnosis, pathology)
• Middle Aged
• Paraneoplastic Cerebellar Degeneration (diagnosis, pathology)