Atypical sporadic Creutzfeldt–Jakob disease presenting as progressing schizophrenia
Correspondence Address: Source of Support: None, Conflict of Interest: None DOI: 10.4103/0028-3886.227321
Source of Support: None, Conflict of Interest: None
Creutzfeldt–Jakob disease (CJD) is a progressive, fatal, and potentially transmissible disease. A clinical diagnosis of CJD is based on the occurrence of rapidly progressive dementia and myoclonus as well as multifocal neurological dysfunction, and can be verified by the characteristic generalized periodic sharp wave complexes of an electroencephalogram (EEG) and a positive 14-3-3 protein test of cerebrospinal fluid (CSF).[2.3] In addition, brain magnetic resonance images (MRI) reveal high signal intensities involving the basal ganglia, thalamus, and cerebral cortex in T2-weighted, fluid-attenuated inversion recovery (FLAIR), and diffusion weighted images (DWI)., However, given the rarity of the condition and the characteristic clinical findings of CJD, critical psychiatric manifestations are often under-appreciated. Recently, we encountered a patient with sporadic CJD who had presented with only psychiatric manifestations followed by development of a vegetative state without myoclonus, dementia, and seizure. Therefore, we describe this unusual case of sporadic CJD and the consecutive MRI findings.
A 46-year old man presented to our hospital with lethargy, delusion of persecution, and auditory hallucinations. He had been suffering from depression and compulsive behavior for 3 months. Initially, he did not complain of gait disturbance, limb weakness, sensory change, tremor, myoclonus, and convulsive movement, and therefore, he was clinically diagnosed as schizophrenic, followed by treatment with psychiatric medications. However, his psychiatric symptoms aggravated and he lost the ability to take care for himself and could not even have a meal by himself.
On admission, his neurological manifestations rapidly progressed. Neurological examination revealed an impaired speech in the form of progressive mutism, difficulty in walking, involuntary jerky movement, and lead pipe rigidity in all four extremities. Deep tendon reflexes were brisk and plantar responses were flexor bilaterally. Further, he had disorganized thinking and judgment, aggressiveness, agitation, and sleeping tendency. Brain MRI showed cortical high signal intensities indicating a typical cortical “ribbon” on fluid attenuated inversion recovery (FLAIR) [Figure 1]a and diffusion weighted images (DWI) [Figure 1]b. EEG revealed periodic triphasic waveforms with background slowing suggesting the presence of sporadic CJD [Figure 2]. In addition, in our patient, pathogenic 14-3-3 prion protein (PrP Sc) in human CSF using RT-QuIC assay showed elevation from the normal value. Routine blood tests of liver, kidney, electrolytes, blood cells, hemoglobin, and nutrition were normal, and special tests for autoimmune encephalitis, vasculitis, and malignancy were negative.
Therefore, based on the diagnostic criteria, our patient was diagnosed as probable sporadic CJD by the two clinical signs of extrapyramidal features and mutism combined with the laboratory findings of typical EEG feature of periodic sharp wave complexes, positive 14-3-3 protein in CSF, and asymmetric hyperintensities on MRI.,,,,
Two years later, he still shows a sustained vegetative state and lead pipe rigidity with a tracheostomy and percutaneous endoscopic gastrostomy insertion. A follow-up brain MRI revealed significant brain atrophy and white matter changes involving both the cerebrum and cerebellum [Figure 3].
Interestingly, he did not present with the characteristic myoclonus, seizure, or dementia in the beginning of disease, but was mainly showing psychiatric symptoms including delusion of persecution, auditory hallucinations, disorganized thinking, aggressiveness, and agitation before the vegetative state following decreased mental status developed.
When a patient's first episode of neuropsychiatric symptoms is rapidly progressive, brain MRI including DWI, EEG test and CSF study are warranted to investigate the possibility of CJD. There has been a rare report of CJD presenting with only psychiatric manifestations, followed by a sustained vegetative state; this rare condition is likely to be misdiagnosed initially as psychosis. This unusual case serves to remind clinicians that patients who present with the first episode of progressive psychosis of an uncertain origin should undergo brain MRI, EEG, and CSF study, and the possibility of CJD should be considered.
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This research was supported by Basic Science Research Program through the National Research Foundation of Korea funded by the Ministry of Education (NRF-2016R1D1A1B03936287).
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Conflicts of interest
There are no conflicts of interest.
[Figure 1], [Figure 2], [Figure 3]