Case report of Lewy body disease mimicking Creutzfeldt-Jakob disease in a 44-year-old man.
BMC Neurol
; 16: 122, 2016 Jul 30.
Article
em En
| MEDLINE
| ID: mdl-27475058
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. CASE PRESENTATION 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.Palavras-chave
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Base de dados:
MEDLINE
Assunto principal:
Síndrome de Creutzfeldt-Jakob
/
Doença por Corpos de Lewy
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article