Creutzfeldt–Jakob disease (CJD) is characterised by rapidly progressive dementia, myoclonus, ataxia, visual disturbances and motor dysfunction. Most of the cases are sporadic. Only 10% to 15% are familial, and the most frequent point mutation is E200K. A 53-year-old man presented with subacute progressive bilateral hypoacusis, with tinnitus in the left ear. During the following months, his hypoacusis worsened and he progressively developed bilateral stocking-type paresthaesia and gait instability. An audiometric examination showed bilateral neurosensorial hypoacusis and nerve conduction studies showed a mixed axonal polyneuropathy. A CT scan and MRI of the brain were normal and the electroencephalography (EEG) showed non-specific changes. He died of respiratory infection 10 months after onset of symptoms. Neuropathological examination showed neuronal loss, punctate, synaptic-like deposits of protease-resistant prionic protein (PrPRES) in the cerebral and cerebellar cortices and auditory nuclei. This is a rare case of sporadic CJD presenting with hearing loss.
[1]
G. Sobue,et al.
Neuropathologic characteristics of brainstem lesions in sporadic Creutzfeldt-Jakob disease
,
2005,
Acta Neuropathologica.
[2]
D. Restivo,et al.
Deafness: an unusual onset of genetic Creutzfeldt-Jakob disease
,
2000,
Neurological Sciences.
[3]
H. Budka,et al.
A novel phenotype in familial Creutzfeldt‐Jakob disease: Prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease‐resistant prion protein
,
1999,
Annals of neurology.
[4]
M. Eisen,et al.
Otolaryngological manifestations of Creutzfeldt-Jakob disease.
,
1998,
Archives of otolaryngology--head & neck surgery.