title: Case report of Lewy body disease mimicking Creutzfeldt-Jakob disease in a 44-year-old man.
abstract: BACKGROUND
  Few patients are reported with dementia with Lewy bodies before fifty years-old, which may partly reflect the difficulty of accurate diagnosis in young population. We report the case of a 44-year-old male with pathologically confirmed sporadic dementia with Lewy bodies, who did not fulfil the revised clinical criteria for this disease.
  
  
  METHODS
  We document this atypical case with clinical and cognitive evaluation, imaging, biochemistry, genetics and pathology investigations. Creutzfeldt-Jakob disease was first suspected in this patient with no previous medical history, who developed acute and rapid cognitive impairment, L-dopa-non-responsive parkinsonism, and delusion. Positive 14-3-3 protein was initially detected in cerebrospinal fluid and until the late stages of the disease. Severe atrophy with no diffusion hypersignal was found on structural MRI as well as an extensive hypometabolism on (18)F-FDG-PET, in comparison to age-matched healthy volunteers. Genetic investigation found no alpha-synuclein gene mutation. The patient died within 5 years, and post-mortem examination found numerous Lewy bodies and Lewy neurites consistent with pure Lewy body disease.
  
  
  CONCLUSIONS
  This comprehensively described case illustrates that dementia with Lewy bodies can occur in young patients with atypical clinical presentation. Biochemistry and neuroimaging investigations can sometimes be insufficient to allow accurate diagnostic. More specific markers to support such diagnosis are needed.
authors.affiliation: Department NVS, Center for Alzheimer Research, Translational Alzheimer Neurobiology, Karolinska Institutet, Stockholm, Sweden.
authors.forename: Laure
authors.initials: L
authors.lastname: Saint-Aubert
authors.affiliation: INSERM UMR825, Imagerie cérébrale et handicaps neurologiques, Toulouse, France.|University of Toulouse, Imagerie cérébrale et handicaps neurologiques, Toulouse, France.|Department of Neurology, University Hospital of Toulouse, Toulouse, France.
authors.forename: Jérémie
authors.initials: J
authors.lastname: Pariente
authors.affiliation: Department of Neuroradiology, University Hospital of Toulouse, Toulouse, France.
authors.forename: Herve
authors.initials: H
authors.lastname: Dumas
authors.affiliation: INSERM UMR825, Imagerie cérébrale et handicaps neurologiques, Toulouse, France.|University of Toulouse, Imagerie cérébrale et handicaps neurologiques, Toulouse, France.|Department of Nuclear Medicine, University Hospital of Toulouse, Toulouse, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Payoux
authors.affiliation: AP-HP, Cellule Nationale de Référence des Maladies de Creutzfeldt-Jakob, Groupe Hospitalier Pitié-Salpêtrière; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ. Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, 75013, Paris, France.
authors.forename: Jean-Philippe
authors.initials: JP
authors.lastname: Brandel
authors.affiliation: INSERM UMR825, Imagerie cérébrale et handicaps neurologiques, Toulouse, France.|University of Toulouse, Imagerie cérébrale et handicaps neurologiques, Toulouse, France.|Department of Neurology, University Hospital of Toulouse, Toulouse, France.
authors.forename: Michèle
authors.initials: M
authors.lastname: Puel
authors.affiliation: Department of Pathology, University Hospital of Bordeaux, Bordeaux, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Vital
authors.affiliation: Aix-Marseille University, CNRS, UMR7289, INT, 13005, Marseille, France.
authors.forename: Eric
authors.initials: E
authors.lastname: Guedj
authors.affiliation: Sorbonne Universities, UPMC (Paris 6), Inserm U1127, CNRS UMR 7225, and ICM, Paris, France.
authors.forename: Suzanne
authors.initials: S
authors.lastname: Lesage
authors.affiliation: Department of Biochemistry, APHP, Lariboisière Hospital, Paris, France.
authors.forename: Katell
authors.initials: K
authors.lastname: Peoc'h
authors.affiliation: INSERM UMR825, Imagerie cérébrale et handicaps neurologiques, Toulouse, France.|University of Toulouse, Imagerie cérébrale et handicaps neurologiques, Toulouse, France.|Department of Neurology, University Hospital of Toulouse, Toulouse, France.|Department of Clinical Pharmacology, University of Medicine, Toulouse, France.
authors.forename: Christine
authors.initials: C
authors.lastname: Brefel Courbon
authors.affiliation: INSERM UMR825, Imagerie cérébrale et handicaps neurologiques, Toulouse, France. ory.f@chu-toulouse.fr.|University of Toulouse, Imagerie cérébrale et handicaps neurologiques, Toulouse, France. ory.f@chu-toulouse.fr.|Department of Neurology, University Hospital of Toulouse, Toulouse, France. ory.f@chu-toulouse.fr.
authors.forename: Fabienne
authors.initials: F
authors.lastname: Ory Magne
mesh_terms: D048948:14-3-3 Proteins / Q000134:cerebrospinal fluid; D000328:Adult; D001921:Brain / Q000473:pathology; D003072:Cognition Disorders / Q000175:diagnosis; D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology; D003702:Delusions / Q000175:diagnosis; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D019788:Fluorodeoxyglucose F18; D005500:Follow-Up Studies; D006801:Humans; D020961:Lewy Body Disease / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D059906:Neuroimaging / Q000379:methods; D020734:Parkinsonian Disorders / Q000175:diagnosis; D049268:Positron-Emission Tomography / Q000379:methods
chemical_list: D048948:14-3-3 Proteins; D019788:Fluorodeoxyglucose F18
keywords: 14–3–3 protein; Dementia with Lewy bodies; Diagnosis; Genetics; Imaging