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A Case of Familial Creutzfeldt-Jakob Disease Presenting with Dry Cough

Published online by Cambridge University Press:  02 December 2014

Sandrine Larue ,
Steve Verreault ,
Peter Gould ,
Michael B. Coulthart ,
Catherine Bergeron  and
Nicolas Dupré
Sandrine Larue
Affiliation:
Department of Neurological Sciences, CHAUQ - Enfant-Jésus, Laval University, Quebec City, QC
Steve Verreault
Affiliation:
Department of Neurological Sciences, CHAUQ - Enfant-Jésus, Laval University, Quebec City, QC
Peter Gould
Affiliation:
Department of Neuropathology, CHAUQ - Enfant-Jésus, Laval University, Quebec City, QC
Michael B. Coulthart
Affiliation:
National Microbiology Laboratory, Public Health Agency of Canada, Winnipeg, MB., Canada
Catherine Bergeron
Affiliation:
Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON
Nicolas Dupré*
Affiliation:
Department of Neurological Sciences, CHAUQ - Enfant-Jésus, Laval University, Quebec City, QC
*
Faculty of Medicine, Laval University, Department of Neurological Sciences, CHAUQ-Enfant-Jésus, 1401, 18th Street, Quebec City, Quebec, G1J 1Z4, Canada
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Abstract:

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Background:

Clinical diagnosis of Creutzfeldt-Jakob disease (CJD) is based on the classical triad of rapidly progressive dementia, myoclonus and abnormal EEG. The 200k mutation within the gene encoding PrP, located on the short arm of chromosome 20, accounts for more than 70% of families with CJD worldwide.

Case Report:

Herein, we report a patient who developed persistent dry cough and classical signs of CJD, including severe cognitive decline, cerebellar signs, and myoclonic jerks, leading to death a few weeks after disease onset. Mutation screening showed that he had the 200k point mutation in the PRNP gene. His mother had died twenty years earlier with neuropathologically confirmed CJD. She had presented a rapidly progressive ataxia with myoclonus, dementia, visual hallucinations, and the same persistent dry cough.

Conclusions:

The clinical presentation of this familial CJD case with persistent dry cough is quite unusual. Therefore, a neurological etiology should be sought when confronted with an unexplained persistent cough.

Résumé:

RÉSUMÉ:Contexte:

Le diagnostic clinique de maladie de Creutzfeldt-Jakob (MCJ) est fondé sur la triadeclassique d’une démence progressantrapidement, de myoclonus et d’anomalies de l’ÉEG. La mutation 200k du gène codant le PrP, situé sur le bras court du chromosome 20, est en cause chez plus de 70% des famillesatteintes de MCJ dans le monde.

Observation:

Nous rapportons l’observation d’un patient qui a présenté unetoux sèche persistante et les signesclassiques d’une MCJ, soit un déclin cognitif sévère, des signes cérébelleux et des secoussesmyocloniques avec décès en quelquessemaines. Le dépistage de mutations dans le gène PRNP a mis en évidence la mutation ponctuelle 200k. La mère du patient était mortevingtansauparavant et un examenneuropathologiqueavait confirmé qu’il s’agissait d’une MCJ. La maladie s’était manifestée chez elle par uneataxieprogressantrapidement, des myoclonies, une démence, des hallucinations visuelles et la même toux sèche persistante.

Conclusions:

La toux sèche persistantecomme manifestation d’une MCJ familiale chez ce patient estinusitée. Uneétiologie neurologiquedevraitêtre recherchée siunetouxpersistantedemeureinexpliquée.

Type
Case Report
Information
Canadian Journal of Neurological Sciences , Volume 33 , Issue 2 , May 2006 , pp. 243 - 245
Copyright
Copyright © The Canadian Journal of Neurological 2006

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