Cerebrospinal fluid real-time quaking-induced conversion test for sporadic Creutzfeldt–Jakob disease in an 18-year-old woman: A case report

We report the case of an 18-year-old woman presented with cerebellar ataxia, blurred vision, rapidly progressive dementia, tremor and involuntary movements, urinary incontinence, mutism, and eventually myoclonus for 16 weeks. Brain MRI scans were unremarkable at the 4th and 8th week after initial symptom presentation, but showed hyperintensity in bilateral basal ganglia and cortical ribboning at the 16th week. Typical periodic bilateral triphasic sharp wave complexes on EEG did not appear until the 16th week after initial symptom presentation. Diagnoses: Due to the young age of the patient and the originally unremarkable MRI and EEG findings, we first considered treatable diseases such as autoimmune encephalitis, infections, organic acidemias and toxication. However, extensive tests ruled out these diseases. When she was finally diagnosed with probable sCJD, we were unable to perform a brain biopsy. We confirmed the diagnosis by detecting the scrapie form of prion protein in the CSF using RT-QuIC. Interventions: Experimental treatments with corticosteroids, intravenous immunoglobulin and ganciclovir were given. Outcomes: Experimental treatments were ineffective. The patient's parents discharged her from our clinic. Lessons: We present a case of probable sCJD with an early onset and a complex clinical picture confirmed by RT-QuIC. This case report suggests that RT-QuIC has great value for the diagnosis of atypical cases.
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

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