Sporadic Creutzfeldt‐Jakob disease: A case report and review of literature

Abstract

Creutzfeldt-Jakob disease (CJD) is a rare and fatal human neurodegenerative disorder characterized by a rapidly progressive dementia, myoclonus, cerebellar, pyramidal, extrapyramidal, visual symptoms, and psychiatric manifestations. CJD occur sporadically in about 85% of cases, 10%-15% are inherited, <1% are iatrogenic, and <1% are variant. 1,2 Normal cellular prion protein (PrPC) is found on cell membranes throughout the mammalian body. Disease-causing form of prion (PrPSc) multiplies by binding to the normal cellular isoform PrP and converts it into an abnormal, structurally altered disease-causing PrPSc, which then spreads and accumulates throughout the brain leading to spongiform neurodegeneration. 1 CJD occurs worldwide, but as systematic surveillance has only been undertaken in a minority of countries, the incidence in much of the world is currently unknown. 3,4 Usually, initial diagnosis of CJD may be obscured by its variable presentation. We herein present a case of a 66-year-old female who was admitted to our university hospital for a rapidly progressive cognitive decline followed by ataxia and myoclonus. She was diagnosed with sporadic CJD, based on her clinical features, cerebrospinal fluid (CSF) studies, electroencephalogram (EEG), and brain magnetic resonance imaging (MRI) imaging sequences. 2 | CASE DESCRIPTION A 66-year-old female was referred to our hospital with 4-month history of progressive cognitive decline, behavioral, and personality changes. She was in her usual state of health until four months ago when she was noted by her family members to have easy forgetfulness and worsening functional impairment. She was initially noted to be aggressive and stopped taking care of herself. As per the husband, she would have sudden outbursts of agitation and delusional behavior followed by paranoid behavior. She initially presented

Creutzfeldt–Jakob disease: A case report and differential diagnoses

“… 8 The classic triad includes progressive dementia, myoclonus, and ataxia. 4 Additional signs include behavioral abnormalities and deficits involving higher cortical function including aphasia, apraxia, and frontal lobe syndrome. Signs of extrapyramidal tract involvement such as hyperreflexia, extensor plantar responses (Babinski sign), and spasticity can be seen in about 40% of cases.…”

“…4 Inherited CJD is associated with the mutation in human prion protein gene (PRNP). 4 Iatrogenic CJD is extremely rare, reported to be caused by administration of cadaveric human pituitary hormone, 5 dural graft transplants, 6 and use of dural mater in radiological embolization procedures. 7 The mean age for the onset of disease is around 62 years and with no one gender predominantly affected.…”

“…CJD is clinically heterogeneous, with a common feature being rapid neuropsychiatric decline, with death occurring within one year of symptom onset. 8 The classic triad includes progressive dementia, myoclonus, and ataxia 4 . Additional signs include behavioral abnormalities and deficits involving higher cortical function including aphasia, apraxia, and frontal lobe syndrome.…”

Specifically Regional Cerebral Hypoperfusion in a Case of Highly Suspected Sporadic Creutzfeldt-Jakob Disease on 99mTc-ECD SPECT/CT with Easy Z-Score Imaging System Analysis

“…However, she expired 16 weeks later due to downhill of clinical outcome. CJD occur sporadically in about 85% of cases, about 10% are inherited, <1% are iatrogenic, and <1% are variant [ 1 ]. In published articles, sCJD is a rapidly progressive dementing illness and associated with EEG/neuroimaging abnormalities, or CSF protein changes [ 2 , 3 , 4 , 5 ].…”