DIAGNOSTIC CHALLENGES IN CREUTZFELDT-JAKOB DISEASE: A CASE STUDY

Abstract

Creutzfeldt-Jakob Disease (CJD) is a severe and rapidly progressive neurological disease, with a median survival of 6 to 12 months, caused by the abnormal accumulation of prion protein in the brain. It is characterized by rapid dementia, myoclonus, tremors, ataxia, and motor impairments. Due to its nonspecific clinical presentation, diagnosis is challenging and often delayed, but the association of clinical findings with complementary examinations, such as magnetic resonance imaging, cerebrospinal fluid analysis, and EEG, contributes to its early identification. This report describes the case of a 73-year-old male patient, previously healthy, residing in a rural area of ​​Minas Gerais, who presented with subacute onset of mental confusion, associated with rigidity, incoherent speech, stereotyped movements, and progressive loss of autonomy. Initially treated with antipsychotics and antidepressants without response, he was admitted to a tertiary hospital, where laboratory tests ruled out infections and metabolic disorders. Magnetic resonance imaging (MRI) revealed cortical hyperintensities in the right frontal, parietal, and occipital lobes, as well as involvement of the caudate nucleus, and cerebrospinal fluid analysis revealed positivity for the 14-3-3 protein, consistent with sporadic CJD. During the course of the disease, the patient presented with severe neurological deterioration, requiring prolonged care, and bilateral laminar subdural hemorrhage as an associated complication. Therefore, this case highlights the importance of comprehensive assessment in elderly patients with mental confusion, especially after intensive pharmacological treatments. The interaction between pre-existing neurological conditions, medication use, and metabolic factors should be carefully considered.