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- W2897324978 abstract "Fatal insomnia (FI) is an extremely rare form of prion disease, which is usually due to a mutation in the prion protein gene (PRNP), which is then called familial FI (FFI), but it may be seen even in rarer sporadic form (sFI). Due to its rarity it presents difficult diagnostic pitfalls for the clinician especially for sFI, for which the diagnosis of the reported handful of cases had usually been possible post-mortem. Here we report a very young case with sFI, whose diagnosis was possible belatedly with the distinctive sleep study and specific positron emission tomography (FDG-PET) findings. This 28-year-old man was first admitted in July 2015 with 3-month history of unsteady gait, slurred speech, daytime sleepiness, panic attack-like episodes. After an extensive diagnostic work-up, which focused especially on a possible autoimmune encephalitis, he was discharged with a diagnosis of psychogenic movement disorder, having found no objective clinical or laboratory finding. The patient returned and readmitted in December. This time he had a well-established pyramido-cerebellar syndrome, absent smooth-pursuit eye movements and pronounced daytime drowsiness. An FDG-PET revealed bilateral thalamic hypometabolism. A 24-hour long polysomnography disclosed findings compatible with agrypnia excitata. His CSF total tau level was moderately elevated (382pg/ml). PRNP genetic analysis revealed no mutation at codon 178 (D178N), thus excluding FFI and codon 129 was shown to be homozygous for methionine, thus confirming the diagnosis of sFI. The patient became bed-ridden by the spring of 2016 with almost permanent drowsiness and still retains this state by the submission date of this abstract. To our knowledge, excluding one adolescent boy whose disease onset was at 13 years of age, this case is the youngest so far reported. Although extremely rare, this diagnosis must not be overlooked in a patient with chronic insomnia and subacute progressive cerebellar syndrome, when more likely and most often treatable causes like autoimmune encephalitides, such as Morvan's syndrome or NMDAR encephalitis are excluded after a meticulous work-up." @default.
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- W2897324978 date "2018-07-01" @default.
- W2897324978 modified "2023-10-17" @default.
- W2897324978 title "P4‐087: SPORADIC FATAL INSOMNIA IN A YOUNG TURKISH MAN" @default.
- W2897324978 doi "https://doi.org/10.1016/j.jalz.2018.06.2490" @default.
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