Sporadic Creutzfeldt-Jakob Disease Presenting with Visual Disturbance—A Case Report in China

Guohong Tian, Lin Sun, Yunhong He, Xiaojun Zhang

Department of Neurology, Beijing Tongren Hospital, Capital Medical University, Beijing, China..
Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai, China;.

DOI: 10.4236/ijcm.2013.47057                

Abstract

Creutzfeldt-Jakob disease (CJD) is a rare but fatal neurodegenerative prion disease. Classic CJD comprises a clinical triad of rapidly progressive dementia, myoclonus, and EEG abnormality. At initial presentation, this classic triad is present only in a minority of cases. Visual impairment is one of the predominant manifestations in the course of CJD, especially in Heidenhain variant phenotype. We reported a case presenting with progressive blurred vision, along with other neurological symptoms, who diagnosed as sporadic CJD with cortical blindness in China.

Keywords

Creutzfeldt-Jakob Disease; Visual Disturbance; Heidenhain Variant; Diffusion Weighted Imaging

Conflicts of Interest

The authors declare no conflicts of interest.

References

[1]	A. Ladogana, M. Puopolo, E. A. Croes, H. Budka, et al., “Mortality from Creutzfeldt-Jakob Disease and Related Disorders in Europe, Australia, and Canada,” Neurology, Vol. 64, No. 9, 2005, pp. 1586-1591. doi:10.1212/01.WNL.0000160117.56690.B2
[2]	C. Gao, Q. Shi, C. Tian, C. Chen, J. Han, W. Zhou, B. Y. Zhang, H. Y. Jiang, J. Zhang and X. P. Dong, “The Epidemiological, Clinical, and Laboratory Features of Sporadic Creutzfeldt-Jakob Disease Patients in China: Surveillance Data from 2006 to 2010,” PLoS One, Vol. 6, No. 8, 2011, Article ID: e24231. doi:10.1371/journal.pone.0024231
[3]	E. Eggenberger, “Prion Disease,” Neurologic Clinics, Vol. 25, No. 3, 2007, pp. 833-842. doi:10.1016/j.ncl.2007.03.006
[4]	S. Kropp, W. J. Schulz-Schaeffer, M. Finkenstaedt, et al., “The Heidenhain Variant of Creutzfeldt-Jakob Disease,” Archives of Neurology, Vol. 56, No. 1, 1999, pp. 55-61. doi:10.1001/archneur.56.1.55
[5]	S. A. Cooper, K. L. Murray, C. A. Heath, R. G. Will and R. S. Knight, “Isolated Visual Symptoms at Onset in Sporadic Creutzfeldt-Jakob Disease: The Clinical Phenotype of the ‘Heidenhain Variant’,” British Journal of Ophthalmology, Vol. 89, No. 10, 2005, pp. 1341-1342. doi:10.1136/bjo.2005.074856
[6]	A. A. Proulx, M. J. Strong and D. A. Nicolle, “Creutzfeldt-Jakob Disease Presenting with Visual Manifestations,” Canadian Journal of Ophthalmology, Vol. 43, No. 5, 2008, pp. 591-595. doi:10.3129/I08-123
[7]	R. W. Paterson, C. C. Torres-Chae, A. L. Kuo, T. Ando, E. A. Nguyen, K. Wong, S. J. Dearmond, A. Haman, P. Garcia, D. Y. Johnson, B. L. Miller and M. D. Geschwind, “Differential Diagnosis of Jakob-Creutzfeldt Disease,” Archives of Neurology, Vol. 24, 2012, pp. 1-5.
[8]	T. Muayqil, G. Gronseth and R. Camicioli, “EvidenceBased Guideline: Diagnostic Accuracy of CSF 14-3-3 Protein in Sporadic Creutzfeldt-Jakob Disease: Report of the Guideline Development Subcommittee of the American Academy of Neurology,” Neurology, Vol. 79, No. 14, 2012, pp. 1499-1506. doi:10.1212/WNL.0b013e31826d5fc3
[9]	P. Vitali, E. Maccagnano, E. Caverzasi, R. G. Henry, A. Haman, C. Torres-Chae, D. Y. Johnson, B. L. Miller and M. D. Geschwind, “Diffusion-Weighted MRI Hyperintensity Patterns Differentiate CJD from Other Rapid Dementias,” Neurology, Vol. 76, No. 20, 2011, pp. 17111719. doi:10.1212/WNL.0b013e31821a4439
[10]	S. Prasad, E. B. Lee, J. H. Woo, A. Alavi and S. L. Galetta, “Photo Essay. MRI and Positron Emission Tomography Findings in Heidenhain Variant CreutzfeldtJakob Disease,” Journal of Neuro-Ophthalmology, Vol. 30, No. 3, 2010, pp. 260-262. doi:10.1097/WNO.0b013e3181e2aef7