Case presentation
A 51 year-old woman was transferred from the regional hospital to the
Neurology department of the University hospital due to over a two week
history of an advancing speech abnormalities characterized by difficulty
in retrieving words and producing structured sentences, involuntary
repetition of the same words or phrases. Most common diagnosis of acute
cerebrovascular event was ruled out after normal CT scan. Due to
Covid-19 pandemic and strict quarantine rules, family members were not
allowed to visit the patients in the hospital, which made gathering
anamnestic facts rather difficult. Recurrent expedient phone call
conversations with patient’s family members revealed that first symptoms
were noticed about three months prior hospitalization. She had trouble
concentrating and had impaired short-term memory which resulted in her
doing same actions repeatedly (e.g. bringing multiple cups of coffee or
meals to her husband), she did not answer questions sensibly and looked
mildly confused.
Past medical history was significant for hypertension. Otherwise the
patient was physically active and worked as an accountant.
At the time of hospitalization, neurological examination revealed
disorientation in space and time. She seemed noncritical of her
condition, had inadequate emotions (e.g. kept smiling or laughing at
questions about her health), and was unable to follow commands on
neurological examination. She had severe sensorimotor aphasia and could
not tell her name or formulate her complaints. Palilalia, echolalia,
apraxia, acalculia, agraphia were present. The rest of the examination
was unremarkable: cranial nerves, motor and sensory systems were intact,
no pathologic or primitive reflexes were found. There were no signs of
either extrapyramidal or cerebellar dysfunction and no myoclonus.
Patient used valsartan/hydrochlorothiazide and metoprolol for her
hypertension. There was no reported alcohol, illicit drug use or
possible contact with chemicals or heavy metals.
On the day of the admission, brain magnetic resonance imaging (MRI) did
not show any signs of ischemia, tumor or other possible structural cause
of her symptoms.
Patient underwent a broad investigation for differential diagnosis -
tests were performed to rule out encephalopathy of various origin, i.e.,
hepatic, renal, thyroid, vitamin deficiencies, and any possible
vascular, infectious, paraneoplastic, and autoimmune etiology of the
previously mentioned symptoms. Laboratory tests included a complete
blood count, a comprehensive metabolic panel, vitamin B12, folates,
thyroid-stimulating hormone, which were all unremarkable. Tests for
sexually transmitted diseases (i.e. syphilis and HIV), borreliosis,
tick-borne encephalitis, onconeural and antineuronal antibodies were
negative. Lumbar puncture was performed in order to eliminate
neuroinfection as a possible diagnosis; CSF analysis did not show any
pleocytosis, while glucose and protein levels were within normal limits.
Neuropsychological testing with Mini-Mental State Examination (MMSE) and
a clock drawing test returned scores of 0, showing significant
impairment of cognitive functions including short-term memory,
attention, concentration, writing, reading, calculating, and
constructional praxis.
In the course of the next 2 weeks she suffered severe cognitive decline,
could no longer eat or go to the bathroom on her own, and replied with
one-word nonsensical answers.
On day 15 in the Neurology department, a second brain MRI was performed.
It revealed very subtle cortical T2W/FLAIR hyperintensities, best
appreciated in the right parietal cortex, and subtle but more extensive
abnormalities on diffusion-weighed imaging, showing signs of diffusion
restriction in both the cortical and deep grey matter, including
bilateral cortical regions (best appreciated in the right parietal and
left parieto-occipital cortices), caudate nuclei, and anterior putamina
(Figure 1). MRI findings were suggestive of typical sCJD, with possible
(but less likely) differential diagnoses including autoimmune
encephalitis and other systemic encephalopathies of various etiologies.