J Korean Ophthalmol Soc.  2008 Sep;49(9):1548-1552.

A Case of Heidenhain Variant of Sporadic Creutzfeldt-Jakob Disease

Affiliations
  • 1Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea. hjm@snu.ac.kr
  • 2Department of Neurology, Seoul National University College of Medicine, Seoul, Korea.
  • 3Department of Ophthalmology, Seoul National University Bundang Hospital, Seongnam, Korea.
  • 4Department of Neurolology, Seoul National University Bundang Hospital, Seongnam, Korea.

Abstract

PURPOSE
To report a case of the Heidenhain variant of sporadic Creutzfeldt-Jakob disease (CJD), predominantly characterized by visual impairment at onset.
CASE SUMMARY
History-taking, ophthalmologic examination, neurologic examination, cerebrospinal fluid examination including 14-3-3 protein analysis, and brain MRI were performed in a 48-year-old man with progressive visual loss and a visual field defect. These symptoms were accompanied by visual illusion and macropsia. Neurologic examination revealed relatively rapidly progressing cognitive impairment, ataxia, aphasia, and myoclonus. The 14-3-3 protein was detectable in otherwise normal CSF samples. The diffusion weighted brain MRI showed increased signal intensity in both occipital lobes, the basal ganglia, the temporal and frontal lobes. He was clinically diagnosed as having a Heidenhain variant of sporadic CJD.
CONCLUSIONS
In a patient with a rapidly progressive visual loss, visual field defects, visual illusion, and neurologic abnormalities including progressive dementia, ataxia, aphasia, and myoclonus, the Heidenhain variant of CJD should be considered. Because prions, a cause of CJD, exhibit unusual resistance to conventional chemical and physical decontamination methods, it is necessary to have an appropriate management scheme to prevent the spread of infection.

Keyword

Diffusion weighted brain MRI; Heidenhain variant of sporadic creutzfeldt-jakob disease (CJD); Progressive visual loss and visual field defect; Visual illusion, 14-3-3 protein

MeSH Terms

14-3-3 Proteins
Aphasia
Ataxia
Basal Ganglia
Brain
Creutzfeldt-Jakob Syndrome
Decontamination
Dementia
Diffusion
Encephalopathy, Bovine Spongiform
Frontal Lobe
Humans
Illusions
Middle Aged
Myoclonus
Neurologic Examination
Occipital Lobe
Prions
Vision Disorders
Visual Fields
14-3-3 Proteins
Creutzfeldt-Jakob Syndrome
Encephalopathy, Bovine Spongiform
Prions

Figure

  • Figure 1. Humphrey visual field test shows right homonymous hemianopia.

  • Figure 2. Humphrey visual field test shows right homonymous hemianopia and left homonymous superior quadrantanopia.

  • Figure 3. Increased signal intensity in bilateral caudate lobes, putamina and the cortex of the occipital lobes on diffusion- weighted brain MRI.


Reference

References

1. Brown P. EEG findings in Creutzfeldt-Jakob disease. JAMA. 1993; 269:3168.
Article
2. Ko SB, Kim YS, Jeong BH. . Clinical presentation of immunohistochemica proven sporadic Creutzfeldt-Jacob disease. J Korean Neurol Assoc. 2001; 19:464–70.
3. Kwak YT, Bang OY, Kim OJ, Kim WJ. Four cases of probable Creutzfeldt-Jacob disease with high signals in cerebral cortex on diffusion weighted MR imaging. J Korean Neurol Assoc. 2006; 24:596–600.
4. Kwon OH, Na DL, Lee JI. . Creutzfeldt-Jakob disease. J Korean Neurol Assoc. 1997; 15:137–51.
5. Kropp S, Schulz-Schaeffer WJ, Finkenstaedt M. . The Heidenhain variant of Creutzfeldt-Jakob disease. Arch Neurol. 1999; 56:55–61.
Article
6. Cooper SA, Murray KL, Heath CA. . Isolated visual symptoms at onset in sporadic Creutzfeldt-Jakob disease: the clinical phenotype of “Heidenhain variant”. Br J Ophthalmol. 2005; 89:1341–2.
7. Jacobs DA, Lesser RL, Mourelatos Z. . The Heidenhain variant of Creutzfeldt-Jakob disease: Clinical, pathologic, and neuroimaging finding. J Neuroophthalmol. 2001; 21:99–102.
8. Brazis PW, Lee AG, Graff-Radford N. . Homonymous visual field defects in patients without corresponding structural lesions on neuroimaging. J Neuroophthalmol. 2000; 20:92–6.
Article
9. Rutala WA, Weber DJ. Creutzfeldt-Jakob disease: recommendations for disinfection and sterilization. Clin Infect Dis. 2001; 32:1348–56.
10. Croes EA, Jansen GH, Lemstra AW. . The first two patients with dura mater associated Creutzfeldt-Jakob disease in the Netherlands. J Neurol. 2001; 248:877–80.
Article
11. Heckmann JG, Lang CJ, Petruch F. . Transmission of Creutzfeldt-Jakob disease via a corneal transplant. J The first two patients with dura mater associated Creutzfeldt-Jakob disease in the Netherlands. Neurol Neurosurg Psychiatry. 1997; 63:388–90.
12. Davies LN, Bartlett HE, Dunne MC. Cling film as a barrier against CJD in Goldmann-type applanation tonometry. Ophthalmic Physiol Opt. 2004; 24:27–34.
Article
13. Rani A, Dunne MC, Barnes DA. Cling film as a barrier against CJD in corneal contact A-scan ultrasonography. Ophthalmic Physiol Opt. 2003; 23:9–12.
Article
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