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

A Case of Heidenhain Variant of Sporadic Creutzfeldt-Jakob Disease

• Kim DH
• Kim SY
• Yang YS
• Jeong SH
• Kim JS
• Hwang JM

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

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

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

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

Reference

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