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.