Diagnostic Challenges in Sporadic Creutzfeldt-Jakob Disease: A Case Study of Typical Clinical Presentation with Negative Findings.

Abstract

BACKGROUND Creutzfeldt-Jakob disease (CJD) is a rare and fatal neurodegenerative disorder caused by the misfolded isoform of the prion protein (PrPSc). The disease is characterized by rapid progression and the absence of effective treatment options, making it particularly devastating. Among its various subtypes, sporadic Creutzfeldt-Jakob disease (sCJD) is the most common in humans. Diagnosing CJD before death is challenging due to its nonspecific symptoms and the difficulty in distinguishing it from other neurodegenerative conditions. CASE REPORT We detail the initial presentation of a 58-year-old woman with suspected sCJD, highlighting the atypical symptoms and prolonged survival. The uniqueness of this case lies in the fact that, despite the patient exhibiting relatively typical clinical features, all laboratory and examination results for CJD consistently returned negative. This led to the patient being transferred between multiple departments, including psychiatry, during the early stages of the disease, making it difficult to receive a correct diagnosis and treatment. The patient's journey through various medical consultations underscores the complexity of diagnosing such a rare condition. It illustrates the importance of a holistic approach that considers both clinical presentation and supplementary examinations. CONCLUSIONS Excessive reliance on supplementary examinations, coupled with insufficient awareness of sCJD across multiple clinical departments and a lack of attentiveness to clinical symptoms, culminated in a misdiagnosis as a psychiatric disorder. This initiated a convoluted and protracted diagnostic process, significantly exacerbating the burden on both the patient and her family. This situation underscores the critical importance of recognizing clinical presentations in rare diseases like sCJD while employing diagnostic tools. Furthermore, it highlights the necessity for enhanced interdisciplinary communication and collaboration among clinical departments to facilitate timely and accurate identification of sCJD.