Introduction

Sporadic Creudzfeldt-Jakob disease (sCJD) is a rare disease caused by prion proteins and usually presents in the 7^th decade of life. sCJD classically presents with a rapidly progressive dementing illness, associated myoclonus and a median time to death of 6-months. Less commonly younger patients are described with a neuropsychiatric presentation and a prolonged disease course.

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Methods

We report two young sCJD patients with neuropsychiatric presentations and slow disease progression admitted to Liverpool Hospital, Sydney (2016-17).

Results

Case 1: A 48-year-old Chinese man presented with a 12-month history of depressive symptoms and insomnia. Over the next 5-months he developed progressive cognitive impairment, disinhibited behaviour, aggression, paranoia and ataxia of gait. Serial electroencephalography and MRI brain scans, cerebrospinal fluid (CSF) testing for 14-3-3 protein and PRNP gene testing were negative or non-contributory. He progressively became mute, bedbound and died at 24-months from symptom onset. Diagnosis was only confirmed with a limited brain autopsy at post-mortem which revealed severe microvacuolar change, gliosis, neuronal loss and status spongiosus. Anti-prion antibody 12F10 staining showed a diffuse fine synaptic pattern in the frontal cortex and striatum consistent with sCJD.

Case 2: A 42-year-old Afghani man presented with a 36-month history of emotional lability and progressive social withdrawal followed by auditory and visual hallucinations, cognitive impairment and gait ataxia. Screening for vasculitis, infective (including HIV/syphilis) and autoimmune encephalopathies were negative. Electroencephalography demonstrated non-specific slowing, without characteristic periodic sharp-wave complexes.  MRI brain was initially normal but progress imaging showed bilateral cortical ribboning, caudate nucleus T2-hyperintensity and associated diffusion restriction consistent with sCJD. CSF 14-3-3 protein analysis was positive. The patient died 38-months from symptom onset. Post-mortem examination was not performed.

sCJD in younger patients may present as a slowly progressive neuropsychiatric disorder and ante-mortem investigations may remain negative. Post-mortem remains the gold standard for CJD diagnosis.