Introduction
Crecutzfeldt-Jakob disease (CJD) is a rare, fatal, and devastating neurodegenerative disease. The incidence rate of CJD ranged from 1.7 to 2.2 per million1. The typical clinical manifestations include intellectual impairment, myoclonus, visual or cerebellar problems, pyramidal or extrapyramidal features, and akinetic mutism2. The disease has a grave prognosis, and the life span ranges from several weeks to 1 year. Furthermore, there is no specific treatment for slowing down the progress of this disease. It is not well recognized and increasingly misdiagnosed due to various reasons, including variant manifestations and lack of available golden standard diagnostic tools in the clinical setting. Here we report a case of probable sporadic CJD in a woman to raise the awareness of this prion-transmitted infectious disease.
Case report
A 67 years old woman presented with half a year history of dizziness. The dizziness worsened over the last six months, and the dizziness could be initiated by moving backward the neck. At the beginning of the disease onset, She had no other presentations, including vomiting, cognitive impairment, unconsciousness, and dysphagia. 6 months before admission, She was hospitalized at a local community hospital, and then she was scanned with routine brain CT and neck MRI. The neck and brain imagings showed the disc herniation of the C1-C2, C3-C4, and some lacunar infarction in the bilateral basal ganglion, respectively. The local community hospital gave her routine anti-platelet and antihyperlipidemic medications for the lacunar infarction.
After four weeks of treatment, the dizziness symptom did not improve, and the patient was then referred to the department of neurology of the Shanghai 6th people ‘s hospital for further neurological consultation. She complained the dizziness worsened over the last two months and weakness of her right lower limb. An additional brain MRI enhancement scan and brain CT angiography scan were performed. The MRI scan indicated that there was an increased signal intensity of the bilateral frontal-temporal-parietal cortex on the diffusion-weighted imaging(DWI) sequence and brain atrophy (Figure 1). In contrast, there was a decreased signal intensity of the counterpart cortex on the apparent diffusion coefficient (ADC) sequence. Brain CT angiography showed normal. At that time, the doctor of the radiology department considered it as acute brain infarction. There were no abnormalities on her full blood test, renal, liver, thyroid function, erythrocyte sedimentation rate, and antinuclear antibody panel. The electrolyte examination showed that her blood potassium was 3.1mmol/L (reference range 3.5-5.5). The previous history revealed that she had half a year of diabetes, and she regularly took metformin to treat diabetes. She did not have a history of smoking and any other drug or alcohol overuse. She also had no significant family history of neurodegenerative diseases. The ultrasound showed there were plaques on her bilateral carotid arteries. The physical and neurological examination showed she had normal blood pressure and weakness of the right distal lower limb (Medical Research Council grade 4/5 ankle dorsiflexion and eversion and grade 4/5 ankle plantar flexion and inversion). The other tests were all within the range. Then the patient was continued to be treated as acute cerebral ischemia with clopidogrel, atorvastatin, and butylphthalide to anti-platelet and lower the level of cholesterol for the next two weeks. However, no remarkable improvement was observed during the period of hospitalization. The patient was discharged after two weeks of treatment.
Four months later, The patient experienced a hip fracture and underwent a hip replacement operation. After that, the patient was unable to ambulate and was confined to the bed at home. Meanwhile, Her cognitive impairment progressed significantly and became fearful, nervous, and mute. The symptoms worsened progressively in the next two weeks. The patient was referred to our department again. The physical evaluation revealed she had startle-related myoclonus, mutism, and hyperreflexia. The patient had little interaction with the family members and had her eyes open but not tracking a face moving across the visual field. She could not cooperate with the Mini Mental State Examination. The patient sometimes moved and hold her bilateral upper extremities voluntarily in the air for no purpose. The electroencephalography (EEG) test was performed, and previous MRI images were reviewed. The EEG showed there were classical synchronous triphasic sharp waves over the bilateral frontal, temporal, occipital regions. (Figure 2). Crecutzfeldt-Jakob disease seems probable based on the new-onset symptoms. However, the family member refuses to do the lumbar puncture for further CSF analysis to confirm the diagnosis. Due to the lack of pathological results, the patient was finally diagnosed as probable sporadic CJD based on the previous medical history, neurological findings, and MRI scan, which fulfilled the diagnostic criteria of sCJD2. The patient was empirically treated for the muscle rigidity with eperisone hydrochloride and then transferred to the local center of disease control (CDC) to accept further treatment due to the infectivity of this disease.