|Year : 2015 | Volume
| Issue : 3 | Page : 201-203
Creutzfeldt-Jakob disease: A great masquerade in neurology, a rare case report from South India
Sivaprakash Varadan, Sudagar Singh, Deepak Rajkumar Vangipuram, Damodharan Jayachandran
Department of General Medicine, Sri Ramachandra Medical College, Chennai, Tamil Nadu, India
|Date of Web Publication||16-Sep-2015|
Dr. Sivaprakash Varadan
Department of General Medicine, Sri Ramachandra Medical College, Chennai - 600 106, Tamil Nadu
Source of Support: None, Conflict of Interest: None
Creutzfeldt-Jakob disease (CJD) is a rare, fatal neurodegenerative disease caused by an infectious protein called prion and is characterized by spongiform changes, neuronal loss, reactive astrocytic proliferation, and accumulation of pathologic cellular protein. Clinical presentation of CJD is characterized by rapidly progressive dementia, neurologic symptoms and visual impairment, and the development of akinetic mutism, which can mimic many neurological conditions. The diagnosis is based on clinical presentation, electroencephalogram, and typical cerebrospinal fluid and magnetic resonance imaging (MRI) findings. Literature on the incidence and prevalence of CJD is lacking in South India. We report the case of a 57-year-old woman with progressive dementia and typical neurologic symptoms, myoclonic jerks, and MRI findings of CJD. This case highlights the need for a high index of suspicion to diagnose CJD.
Keywords: Creutzfeldt-Jakob disease, dementia, prion
|How to cite this article:|
Varadan S, Singh S, Vangipuram DR, Jayachandran D. Creutzfeldt-Jakob disease: A great masquerade in neurology, a rare case report from South India. J Sci Soc 2015;42:201-3
|How to cite this URL:|
Varadan S, Singh S, Vangipuram DR, Jayachandran D. Creutzfeldt-Jakob disease: A great masquerade in neurology, a rare case report from South India. J Sci Soc [serial online] 2015 [cited 2021 Jun 17];42:201-3. Available from: https://www.jscisociety.com/text.asp?2015/42/3/201/165581
| Introduction|| |
Creutzfeldt-Jakob disease More Details (CJD) is a rare, fatal neurodegenerative disease caused by an infectious protein called prion and is characterized by spongiform changes, neuronal loss, reactive astrocytic proliferation, and accumulation of pathologic cellular protein. Clinical presentation of CJD is characterized by rapidly progressive dementia, neurologic symptoms and visual impairment, and the development of akinetic mutism, which can mimic many neurological conditions. This case report is about a patient who presented with dementia and other neurological symptoms and was found to have CJD on evaluation.
| Case Report|| |
A 57-year-old woman was admitted to our hospital with complaints of altered sensorium for 1-week, irritability, inability to recognize her family members and an inability to perform daily activities of living. She had speech disturbances for 3 days with bowel and bladder incontinence. There is no history of fever, seizures, sensory disturbance, limb weakness, vomiting, loose stools or abdominal pain. On probing further, her family members said that she had memory loss, irritability and altered behavior which were progressive. She also had auditory and visual hallucinations. There is no significant family history. She underwent cataract surgery 1-year ago.
On examination, she was awake and irritable, and obeyed simple commands. The cranial nerves and sensory system were normal. Examination of the motor system revealed a generalized hypertonia and exaggerated deep tendon reflexes. The plantar reflex was extensor. Myoclonic jerks were present during the examination. She had no signs of meningeal irritation.
Her routine lab investigations were normal. Cerebrospinal fluid (CSF) analysis showed a white cell count of 20/mm 3 (polymorphs 40%, lymphocytes 60%), red blood cells 3500/mm 3 with no xanthochromia, sugar 24 mg/dL and protein 91 mg/dL. Adenosine deaminase activity and polymerase chain reaction for tuberculosis were negative. A Gram-stained smear was negative for organisms. CSF culture was negative.
She developed one episode of generalized tonic-clonic seizures in the ward. Her electroencephalogram (EEG) showed periodic triphasic discharges on a slow delta wave background [Figure 1]. Diffusion-weighted magnetic resonance imaging (MRI) was done [Figure 2], [Figure 3], [Figure 4], which revealed altered signal intensities appearing hyperintense on T2/fluid-attenuated inversion recovery (FLAIR)/proton density images with diffusion-weighted imaging (DWI) restriction seen involving bilateral caudate nuclei and left lentiform nucleus. Cortical base restricted diffusion seen in bilateral front parietal region-cortical ribbon sign.
|Figure 4: Diffusion-weighted imaging restriction seen involving bilateral caudate nuclei and left lentiform nucleus|
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Based on the history, examination, EEG, and MRI findings, we made a diagnosis of sporadic Creutzfeldt-Jakob disease (CJD). CSF 14-3-3 protein level could not be done due to nonavailability of the test in India. She was given supportive treatment and anticonvulsants with physiotherapy, but her condition progressively deteriorated and she went into an akinetic-mute state. The patient was subsequently discharged at her family's request and was lost to follow-up. The total duration of her stay in our hospital was 2 weeks.
| Discussion|| |
Creutzfeldt-Jakob disease is a rapidly progressive fatal neurological disorder with a myriad of clinical features, which often confuses the clinician in arriving at a diagnosis. CJD can be sporadic, infectious or familial with 80-90% of cases being sporadic.
The WHO criteria for probable sporadic CJD are:
- Exclusion of alternative diagnoses with routine investigations;
- Rapidly progressive dementia;
- At least two of the following four clinical features - myoclonus, visual disturbance or cerebellar dysfunction, pyramidal or extrapyramidal features, and akinetic mutism;
- A typical EEG pattern (periodic sharp wave complex [PSW]), and/or CSF positive for 14-3-3 protein by immunoblot; and
- A clinical duration of <2 years before death. 
Zerr et al. published an updated clinical criteria for diagnosing sporadic CJD, which includes MRI findings having as significant diagnostic importance as PSW complexes on the EEG or 14-3-3 protein detection in the CSF.  Our patient met both these criteria for the diagnosis of sporadic CJD.
Diagnosis of sporadic CJD should be made only after carefully excluding other conditions with vascular, infectious, hypoxic, metabolic, degenerative, paraneoplastic or autoimmune etiologies, as many of the clinical features of CJD resemble these conditions. Yen et al. described a case of CJD presenting with predominant psychiatric manifestations. 
Characteristic EEG findings in CJD consist of lateralized PSW complexes in the early stage which are generalized in the middle and late stages. Typical EEG findings cannot be elicited in the terminal stage of the disease, when myoclonus is absent.  Detection of 14-3-3 protein, a proteinase inhibitor, which is released from damaged neurons into the CSF, helps the diagnosis. Zerr et al. found that 14-3-3 protein is 94% sensitive and 84% specific for the disease.  This protein can also be detected in viral encephalitis, Hashimoto encephalitis, amyotrophic lateral sclerosis, and other types of dementia.
The DWI abnormalities reported for CJD include regions of asymmetric high-signal intensity in the cerebral cortex (cortical ribbon sign), thalamus, caudate, and putamen nuclei. The intensity was increased along the course of the disease on serial scans. A study by Young et al. showed that DWI and FLAIR imaging were 91% sensitive, 95% specific, and 94% accurate for diagnosing CJD.  According to Mendez et al., multifocal cortical and subcortical hyperintensities confined to gray matter regions in DWI MRI may be a more useful noninvasive diagnostic marker for CJD than CSF protein 14-3-3. 
| Conclusion|| |
Sporadic CJD can mimic many neurological conditions, especially during the early presentation. A combination of clinical, EEG, and MRI findings will help us achieve the diagnosis. This case report highlights the use of updated criteria to diagnose CJD, using classical MRI findings, as PSW complexes on the EEG may not be evident in early stages and 14-3-3 protein detection in the CSF cannot be done in a resource-limited setting. This case report also emphasizes the need for further studies to know the incidence, prevalence, and clinical pattern of sporadic CJD in South India, which may go underreported.
| References|| |
World Health Organization. Global Surveillance, Diagnosis and Therapy of Human Transmissible Spongiform Encephalopathies: Report of a WHO Consultation. Geneva: (WHO/EMC/ZOO/97.3), WHO; 1998.
Zerr I, Kallenberg K, Summers DM, Romero C, Taratuto A, Heinemann U, et al.
Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Brain 2009;132:2659-68.
Yen CF, Lin RT, Liu CK, Lee PW, Chen CC, Chang YP. The psychiatric manifestation of Creutzfeldt-Jakob disease. Kaohsiung J Med Sci 1997;13:263-7.
Steinhoff BJ, Zerr I, Glatting M, Schulz-Schaeffer W, Poser S, Kretzschmar HA. Diagnostic value of periodic complexes in Creutzfeldt-Jakob disease. Ann Neurol 2004;56:702-8.
Zerr I, Pocchiari M, Collins S, Brandel JP, de Pedro Cuesta J, Knight RS, et al.
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Young GS, Geschwind MD, Fischbein NJ, Martindale JL, Henry RG, Liu S, et al.
Diffusion-weighted and fluid-attenuated inversion recovery imaging in Creutzfeldt-Jakob disease: High sensitivity and specificity for diagnosis. AJNR Am J Neuroradiol 2005;26:1551-62.
Mendez OE, Shang J, Jungreis CA, Kaufer DI. Diffusion-weighted MRI in Creutzfeldt-Jakob disease: A better diagnostic marker than CSF protein 14-3-3? J Neuroimaging 2003;13:147-51.
[Figure 1], [Figure 2], [Figure 3], [Figure 4]