A case of familial Creutzfeldt-Jakob disease presenting with dry cough.
Can J Neurol Sci
; 33(2): 243-5, 2006 May.
Article
en En
| MEDLINE
| ID: mdl-16736740
ABSTRACT
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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Contexto en salud:
2_ODS3
/
6_ODS3_enfermedades_notrasmisibles
Problema de salud:
2_mortalidade_materna
/
6_alzheimer_other_dementias
/
6_mental_health_behavioral_disorders
/
6_other_respiratory_diseases
Asunto principal:
Síndrome de Creutzfeldt-Jakob
/
Tos
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
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Male
/
Middle aged
Idioma:
En
Revista:
Can J Neurol Sci
Año:
2006
Tipo del documento:
Article
País de afiliación:
Canadá