Creutzfeldt-Jakob disease (CJD) is one of the human prion diseases and one of the rare progressive neurodegenerative disorders. It is a fatal disease with an annual incidence rate of 1–2 per million worldwide. CJD is characterized by neuronal loss, gliosis, and spongiform change with accumulation of abnormal prion protein in the brain. However, it is difficult to diagnose CJD premortem because of a lack of knowledge or a low index of suspicion [1].
The forms of CJD are sporadic Creutzfeldt-Jakob disease (sCJD) (85%–90%), genetically transmitted (familial) (10%), iatrogenic—which can be transmitted by contaminated surgical instruments or human tissues (dura-mater grafts, growth hormone preparations, cornea grafts, and intracranial cortical electrodes), and variant form (the so-called Mad Cow Disease) [1]. The mean onset age of sCJD is 65 years; most of the cases are within the age range of 60 to 80 years, both genders are nearly equally affected, and the etiology is unknown [2].
Three different stages of the disease are recognized during its clinical evolution: prodrome (lasts about 3 to 4 months), the patient presents with vague symptoms such as inattention, asthenia, weight loss, depression, sleep disorders, motor incoordination, nystagmus, and visual abnormalities; disease stage (mean duration of 4 to 5 months), it includes symptoms of cognitive compromise, progressive dementia, behavioral disorders, clinical signs of pyramidal, extrapyramidal, and cerebellar compromise; terminal stage, this is the end-stage in which the patient progresses to myoclonic jerks and coma, deteriorating to decortication and decerebration postures, dysautonomic symptoms, and seizures. The duration depends on the nursing care provided [3].
The diagnosis essentially depends on the clinical signs, in electroencephalographic (EEG) findings, and in the detection of the 14-3-3 protein in the spinal fluid [3,4,5]. However, neuropathologic features can make the definitive diagnosis [3].
EEG findings change along with the different stages of the disease; in 75 to 94% of patients, the characteristic periodic pattern can be found; however, it only can be found in the late stage of the disease (up to 12 weeks) [6].
We report a case of probable sporadic Creutzfeldt-Jakob disease at Suez Canal University Hospital, Egypt.
Case description
A 65-year-old hypertensive man was brought to the neurology outpatient clinic, Suez Canal University Hospital, Egypt, with about 2 weeks’ history of progressive gait instability and impaired cognitive functions regarding attention and apraxia with no fever or fits. On examination, the patient was inattentive, has ataxic gait, and has increased deep tendon reflexes.
He was admitted to the hospital for investigation. Brain MRI study was done, revealing minor brain atrophy, which was considered within normal limits for patient age; there were no infarcts, masses, or extra-axial fluid collections. EEG was done as a part of the routine investigation. The EEG was markedly abnormal, with a high-amplitude periodic generalized wave that occurs with a diffuse slow background. The discharges consist of sharp and triphasic waves of varying durations that repeat with a period of up to 4 s. and they are typically anterior predominant (Fig. 1). A spinal tap was done, but his CSF had cell counts, glucose, and protein within normal limits. No metabolic abnormalities were found.
After 1 week, his symptoms became worse in the form of inability to walk and a deterioration of his cognitive functions. A new brain MRI was nonspecific; a new EEG showed the same finding as the first one. CSF was normal, but the 14-3-3 protein was requested outside the hospital as it was not available in our hospital, but unfortunately, the patient was deceased before it was fulfilled.
One week later, he developed bradyphrenia in the form of slowed thinking and processing of information and myoclonic fits. Repeated brain MRI (DWI) showed hyper-intensities mainly in the frontal lobe, cingulate gyrus, and caudate areas (more to right) along with diffuse cortical enhancement (Fig. 2). Repeated EEGs had the same typical pattern as before.
After a few days, the patient developed akinetic mutism (patients tending neither to move nor speak) and myoclonic jerks mainly with rare tonic-clonic fits which become intractable and was admitted to ICU; he went into a coma. He had urinary tract and chest infections during his stay in the ICU; finally, the patient was deceased after a few days as a result of pulmonary insufficiency.
As the patient was deceased, written informed consent was obtained from the son of the patient for publication of this case report and accompanying images.
The case report was approved by the ethics committee of the Faculty of Medicine of Suez Canal University on November 26, 2018; the registration number is 3649.
