RT Journal Article
SR Electronic
T1 Fatal insomnia: the elusive prion disease
JF BMJ Case Reports
JO BMJ Case Reports
FD BMJ Publishing Group Ltd
SP e241289
DO 10.1136/bcr-2020-241289
VO 14
IS 6
A1 Dharmini Patel
A1 Hagar Ibrahim
A1 Julia Rankin
A1 David Hilton
A1 Marcelo A Barria
A1 Diane L Ritchie
A1 Colin Smith
A1 Adam Zeman
YR 2021
UL http://casereports.bmj.com/content/14/6/e241289.abstract
AB A previously well 54- year-old woman presented with a short history of diplopia, cognitive decline, hallucinations and hypersomnolence. The patient had progressive deterioration in short-term memory, ocular convergence spasm, tremor, myoclonus, gait apraxia, central fever, dream enactment and seizures. Results of investigations were normal including MRI brain, electroencephalogram, cerebrospinal fluid (CSF, including CSF prion protein markers) and brain biopsy. The patient died from pneumonia and pulmonary embolus. Brain postmortem analysis revealed neuropathological changes in keeping with Fatal familial insomnia (FFI); the diagnosis was confirmed on genetic testing. FFI is caused by an autosomal dominant and highly penetrant pathogenic Prion Protein gene PRNP. Although usually familial, fatal insomnia (FI) also occurs in a rare sporadic form. FI is a rare human prion disease with prominent sleep disturbance, autonomic, motor, cognitive and behavioural involvement. Patient management is with best supportive care and early suspected diagnosis allows for timely palliation.