The clinical analysis of 3 patients diagnosed with sporadic Creutzfeldt-Jakob disease: A case report

RATIONALE: Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare and highly fatal neurodegenerative disorder with heterogeneous clinical presentations, making accurate early diagnosis challenging. Furthermore, there is a critical paucity of epidemiological and clinical data regarding sCJD in the Xinjiang region, contributing to frequent misdiagnoses. PATIENT CONCERNS: We present 3 patients who exhibited rapidly progressive dementia alongside multifocal neurological signs, including ataxia, extrapyramidal symptoms, and visual disturbances. DIAGNOSES: Comprehensive evaluations revealed positive cerebrospinal fluid 14-3-3 protein and the M/M genotype at prion protein gene codon 129 without pathogenic mutations in all cases. Cranial magnetic resonance imaging findings varied from early focal restrictions to typical widespread cortical "ribbon signs," while electroencephalograms lacked classic periodic sharp-wave complexes. All 3 patients fulfilled the 2017 National CJD Research and Surveillance Unit diagnostic criteria for probable sCJD. INTERVENTIONS: The patients received multifaceted symptomatic and supportive treatments, including measures to improve cerebral circulation and metabolism, as well as comprehensive nutritional and neurological support. OUTCOMES: Despite targeted treatments, no significant clinical improvement was observed. All patients experienced rapid and fatal disease progression, passing away between 1 month and 1.5 years following hospital discharge. LESSONS: The absence of classic electroencephalogram findings, such as periodic sharp-wave complexes, should not delay an sCJD diagnosis. Recognizing clinical "red flags" and utilizing multimodal diagnostic approaches are essential for early recognition and minimizing misdiagnosis, especially in regions with limited clinical data.