Misdiagnosis of rarest subtype of sporadic Creutzfeldt Jakob Disease: a case report

Aemal Aziz Jabarkhil; Aziz Rahman Rasib; Abdullah Asady; Farhad Farzam

doi:10.1186/s12883-023-03318-z

Misdiagnosis of rarest subtype of sporadic Creutzfeldt Jakob Disease: a case report

BMC Neurol. 2023 Jul 18;23(1):274. doi: 10.1186/s12883-023-03318-z.

Authors

Aemal Aziz Jabarkhil¹, Aziz Rahman Rasib², Abdullah Asady³, Farhad Farzam⁴

Affiliations

¹ Department of Neuropsychiatry, Kabul University of Medical Sciences, Kabul, 1001, Afghanistan.
² Department of Neuropsychiatry, Kabul University of Medical Sciences, Kabul, 1001, Afghanistan. azizrahmanrasib@gmail.com.
³ Department of Microbiology, Kabul University of Medical Sciences, Kabul, 1001, Afghanistan.
⁴ Department of Medical Imaging and Radiation Sciences, Kabul University of Medical Sciences, Kabul, 1001, Afghanistan.

Abstract

Background: Creutzfeldt-Jakob disease (CJD), is a deadly degenerative condition of the central nervous system marked by rapidly progressive dementia. Magnetic resonance imaging (MRI) abnormalities in the cerebral cortex, basal ganglia, thalamus, and cerebellum could indicate severe acute diseases caused by a variety of factors. Although their MRI patterns may resemble those of CJD, clinical history, additional MRI findings, and laboratory testing are all necessary to provide a reliable difference. Here, we report a misdiagnosed case of probable VV1 subtype of sporadic CJD (sCJD) in which follow-up MRI supported the diagnosis.

Case presentation: A 41-year-old male patient attended the Neuropsychiatry Department with rapidly progressive dementia, akinetic mutism, and difficulty walking and speaking. His problem began with forgetfulness, disorganized behavior, and disorganized speech 7 months earlier which progressed rapidly and was accompanied by aphasia, apraxia, agnosia, and akinetic mutism in the last 2 months. On neurologic examination, hypertonia, hyperreflexia, frontal ataxia, bradykinesia, gait apraxia, and aphasia were noted. Based on clinical features and rapid symptoms progression the likely diagnosis of CJD was suspected. MRI and electroencephalography (EEG) were advised. MRI revealed features of diffuse cortical injury of both cerebral hemispheres also involving bilateral corpus striatum with evidence of cerebral volume loss. EEG showed lateralized periodic theta slow waves on the right side. According to the CDC's diagnostic criteria for CJD, the diagnosis of probable sCJD was established. Supportive care and symptomatic treatment are provided for the patient. After a 1-month follow up the patient's condition deteriorated significantly. The time-lapse from the first reported symptom to death was about 13 months.

Conclusion: The need of addressing CJD in patients presenting with rapidly progressive dementia is highlighted in this case report. In the early stages of the disease, interpretation of MRI results might cause diagnostic difficulties; therefore, follow-up MRI is critical in obtaining the correct diagnosis.

Keywords: Case report; Magnetic resonance imaging; Sporadic Creutzfeldt-Jakob disease; VV1 subtype.

Publication types

Case Reports

MeSH terms

Adult
Akinetic Mutism* / complications
Creutzfeldt-Jakob Syndrome* / pathology
Diagnostic Errors
Electroencephalography
Humans
Magnetic Resonance Imaging / methods
Male

Supplementary concepts

Creutzfeldt-Jakob Disease, Sporadic