| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
|
|
|
|||||||
|
|||||||||
St. Vincent's Hospital Dublin 4, Ireland
St. Vincent's Hospital Beaumont Hospital Dublin 9, Ireland
Creutzfeldt-Jakob Disease (CJD) typically causes a rapidly progressive dementia that may be associated with other neurologic features such as cerebellar or visual disturbance. New variant CJD differs; psychiatric and sensory symptoms, which are frequently painful, are prominent at presentation. Investigations, including electroencephalography and cerebrospinal fluid analysis for 14-3-3 protein, are useful as diagnostic aids but lack specificity. Presently, the diagnosis of variant CJD can be confirmed only at postmortem examination.
A 33-year-old woman presented with a 4-month history of worsening pain in one leg. This was accompanied by a 1-month history of progressive unsteadiness. Deterioration in the patient's memory was noted from a collateral history, and an evolving history of depression associated with delusions and visual hallucinations became apparent. Examination revealed a moderately severe truncal ataxia and evidence of mild cognitive impairment. Routine hematologic and biochemical investigations were unremarkable, and CT findings of the patient's brain were normal. Lumbar puncture results proved positive for 14-3-3 protein. MR imaging of the brain was performed. Areas of high signal intensity were seen bilaterally in the pulvinar regions and medial aspects of the thalami on axial fluid-attenuated inversion-recovery images (Fig. 4A). On T2-weighted parasagittal images, the posterior thalami were predominantly involved (Fig. 4B).
|
|
The differential diagnosis for abnormal findings in this region includes bilateral thalamic infarcts, perinatal ischemic insult, deposition of iron or copper, and neoplastic infiltration—particularly of lymphoma or glioma. However, the combination of clinical presentation and radiologic findings in this case was most suggestive of variant CJD. The patient's condition deteriorated, and death occurred 4 months later. The diagnosis of variant CJD was confirmed at postmortem examination.
A novel form of CJD was reported in 1996 when a group of people with specific and atypical clinical features were found to be positive for prion protein at necropsy [1, 2]. Investigations were generally unremarkable. Electroencephalography showed slow wave activity but none of the periodic sharp waves typical of sporadic CJD. The 14-3-3 protein positivity in cerebrospinal fluid was variable. Two patients were noted to have regions of high signal intensity in the posterior thalamus on T2-weighted MR images [1]. Subsequently, the "pulvinar" sign was described in a series of 14 patients with variant CJD. In this study, the authors reported symmetric high-signal-intensity changes affecting the pulvinar and medial areas of the thalamus and the tectal plate [3]. It is now apparent that these changes are evident in more than 70% of the pathologically confirmed cases of variant CJD in which the patient has undergone brain imaging. MR investigation has superseded cerebrospinal fluid analysis and electroencephalography in its specificity as a diagnostic aid for this form of human prion disease. In conjunction with typical clinical features, the pulvinar sign forms part of the diagnostic criteria for variant CJD [4].
References
CiteULike 
Complore 
Connotea 
Del.icio.us 
Digg 
Reddit 
Technorati What's this?
This article has been cited by other articles:
|
|
 |
|
  G. S. Young, M. D. Geschwind, N. J. Fischbein, J. L. Martindale, R. G. Henry, S. Liu, Y. Lu, S. Wong, H. Liu, B. L. Miller, et al. Diffusion-Weighted and Fluid-Attenuated Inversion Recovery Imaging in Creutzfeldt-Jakob Disease: High Sensitivity and Specificity for Diagnosis AJNR Am. J. Neuroradiol., June 1, 2005; 26(6): 1551 - 1562. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. Moritani, W. R. K. Smoker, Y. Sato, Y. Numaguchi, and P.-L. A. Westesson Diffusion-Weighted Imaging of Acute Excitotoxic Brain Injury AJNR Am. J. Neuroradiol., February 1, 2005; 26(2): 216 - 228. [Full Text] [PDF]
|
|
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
