Creutzfeldt-Jakob disease (CJD) is usually characterized by rapidly progressive dementia, myoclonus, periodic sharp-wave electroencephalographic activity and spongiform degeneration. Although major variations in clinical presentation have consistently been observed, there is only one case in the literature of a CJD patient presenting with prodromal cough. Herein, we report a patient and his mother who both developed persistent dry cough prior to classical signs of CJD. Neurological etiologies of cough are discussed and relevant literature on its neurophysiology is reviewed.
CASE PRESENTATIONA 52-year-old man came to our hospital because of recent onset of gait difficulties. He was born in Canada, but both his parents were born in Greece, being of Sephardim Jewish ancestry. His mother had died at 48 years of age with neuropathologically confirmed CJD. She had presented a rapidly progressive ataxia with myoclonus, dementia, visual 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.