ArticlesThe pulvinar sign on magnetic resonance imaging in variant Creutzfeldt-Jakob disease
Introduction
Creutzfeldt-Jakob disease (CJD) is a rare and fatal neurodegenerative disorder that occurs in four forms: sporadic, iatrogenic, familial, and variant.1 The diagnosis of CJD is important for clinical management, public health, and epidemiological purposes. Definitive diagnosis currently relies on neuropathological findings and therefore requires cerebral biopsy or necropsy. There is no non-invasive in vivo diagnostic test with 100% accuracy at present. Standard clinical diagnostic criteria2 have been established for sporadic, iatrogenic, and familial CJD, allowing reasonably accurate diagnosis in most of these patients. For variant CJD (vCJD), however, there is no standard clinical diagnostic criteria, partly because there has been less accumulated clinical experience with this condition. Although cases of vCJD to date have had fairly characteristic clinical features,3, 4, 5 none of the characteristics were specific. It would therefore be useful to have diagnostic support from routine clinical investigations. The electroencephalogram (EEG) has played an important part in the diagnosis of sporadic CJD6 but the characteristic periodic changes are not a feature of vCJD.3 The cerebrospinal fluid 14–3–3 test7, 8 has now been incorporated into the diagnostic criteria for sporadic CJD,2 but this test does not seem to be as sensitive for vCJD,3 and cannot discriminate between variant and other forms of CJD. Single photon-emission computed tomography may be helpful, but has been reported for only two vCJD cases.9
During the course of CJD surveillance it was noted that high signal was reported in the posterior thalamus (pulvinar) bilaterally on dual echo (T2 or proton density-weighted) magnetic resonance imaging (MRI) in two histologically proven vCJD cases.10, 11 We postulate that the identification of bilateral pulvinar high signal might be a sensitive and specific test for the diagnosis of vCJD in patients with suspected disease. An earlier study provided some support for this hypothesis but was based on a small sample of cases and controls.12 We report the findings of a larger MRI study of patients with vCJD.
Section snippets
Methods
We attempted to obtain MRI brain examinations from all patients in the UK with suspected vCJD who were referred to the National CJD Surveillance Unit. The method of CJD surveillance in the UK has been described elsewhere.13 The surveillance study received approval from the Lothian Health Board Medical Ethics Committee. We did control MRI examinations on two groups of patients: patients suspected of having vCJD who were then diagnosed with other conditions; and patients known or suspected to
Results
MRI was done for 93 patients (table 1); 36 had histologically confirmed vCJD. The control group consisted of 57 individuals with a diagnosis other than vCJD. The mean age of the 36 histologically confirmed vCJD cases was 30 years (range 15–52) and of the 57 controls was 52 years (range 14–79). 27 controls were younger than 52 years. The age distribution of the 14 controls who were initially suspected to have vCJD but were later given a different diagnosis was similar to that of the
Discussion
Traditionally the main role of neuroimaging in patients with suspected CJD has been to exclude other conditions. Computed tomography and MRI in sporadic CJD might be normal15 or show atrophy, the latter particularly with protracted illness.16 MRI has been reported to show increased cortical17, 18 or white matter signal on T2-weighted images in sporadic CJD, in some cases corresponding to the clinical syndrome, such as occipital lobe high signal in patients with prominent visual symptoms.17
References (30)
- et al.
New variant Creutzfeldt-Jakob disease: neurological features and diagnostic tests
Lancet
(1997) - et al.
New variant Creutzfeldt-Jakob disease: psychiatric features
Lancet
(1997) - et al.
New variant Creutzfeldt-Jakob disease in a 26-year-old French man
Lancet
(1996) - et al.
Prion protein accumulation in the spinal cords of patients with sporadic and growth hormone associated Creutzfeldt-Jakob disease
Neurosci Lett
(1995) - et al.
Unusual MRI findings after status epilepticus due to cat-scratch disease
Pediatric Neurol
(1994) - et al.
Creutzfeldt-Jakob disease and related transmissible spongiform encephalopathies
N Engl J Med
(1998) Report of the WHO consultation on the global surveillance, diagnosis and therapy of human transmissible spongiform encephalopathies
(1998)- et al.
Psychiatric features of new variant Creutzfeldt-Jakob disease
Psychiatr Bull
(1999) - et al.
Accuracy and reliability of periodic sharp wave complexes in Creutzfeldt-Jakob disease
Arch Neurol
(1996) - et al.
The 14–3–3 brain protein in cerebrospinal fluid as a marker for transmissible spongiform encephalopathies
N Engl J Med
(1996)
Detection of 14–3–3 protein in the cerebrospinal fluid supports the diagnosis of Creutzfeldt-Jakob disease
Ann Neurol
Single photon emission computed tomography in the identification of new variant Creutzfeldt-Jakob disease
BMJ
Creutzfeldt-Jakob disease in a young woman
Lancet
MR imaging of new variant Creutzfeldt-Jakob disease: the pulvinar sign
Neuroradiology
Sporadic Creutzfeldt-Jakob disease in the United Kingdom: analysis of epidemiological surveillance data for 1970–96
BMJ
Cited by (306)
Prion diseases or transmissible spongiform encephalopathies
2022, Revue de Medecine InterneThalamic-insomnia phenotype in E200K Creutzfeldt–Jakob disease: A PET/MRI study
2022, NeuroImage: ClinicalCitation Excerpt :However, these pathological changes manifest as functional impairment, are consistent and can be detected by sensitive PET measures, which may warrant clinical consideration. Previous studies have suggested that thalamic involvement is a diagnostic feature of variant CJD (vCJD) (Zeidler et al., 2000), and thalamic involvement has also been occasionally reported in the MM2 thalamic form of sCJD (Hirose et al., 2006; Moda et al., 2012). In addition, one case of VV2 type sCJD also reported changes in the thalamus (Fukushima et al., 2004).
Spatial distribution of abnormal EEG activity in Creutzfeldt-Jakob disease
2021, Neurophysiologie CliniquePrion disease diagnosis using subject-specific imaging biomarkers within a multi-kernel Gaussian process
2019, NeuroImage: ClinicalPrion Diseases
2018, Neurologic Clinics