Open AccessSporadic Creutzfeldt–Jakob Disease Appears to Be Sporadic Fatal Insomnia: A Case Report and Review of the Literature
Author(s) -
Qingqing Sun,
Pingping Shen,
Jian Tang,
Hongmei Meng,
Jiachun Feng,
Zan Wang,
Li Cui
Publication year - 2021
Publication title -
nature and science of sleep
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.715
H-Index - 34
ISSN - 1179-1608
DOI - 10.2147/nss.s319917
Subject(s) - medicine , disease , fatal familial insomnia , insomnia , pathology , psychiatry , prion protein
Creutzfeldt-Jakob disease (CJD) subtypes are difficult to identify due to the heterogeneity of the clinical phenotype, and early accurate identification of sporadic CJD (sCJD) subtypes aids prognosis prediction. Currently, the diagnosis of sCJD subtypes is mainly based on brain tissue biopsy or autopsy. In this report, we present a case of confirmed sCJD initially presenting as insomnia. We described detailed information including clinical, electroencephalographic, polysomnographic, positron emission tomography-computed tomographic and other neuroimaging findings, cerebrospinal fluid biomarkers, skin tissue biopsy and whole blood PRNP gene sequencing in this patient. An extensive literature search was performed in order to better understand the diagnosis of various sCJD subtypes, particularly the thalamic form, sCJDMM2 (also known as sporadic fatal insomnia). Our study highlights sporadic fatal insomnia as a differential diagnosis of sCJD.