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Case Reports
. 2019 Feb 6;7(3):389-395.
doi: 10.12998/wjcc.v7.i3.389.

Gerstmann-Sträussler-Scheinker disease: A case report

Ming-Ming Zhao  1 , Liang-Shu Feng  1 , Shuai Hou  1 , Ping-Ping Shen  1 , Li Cui  1 , Jia-Chun Feng  2
Affiliations
Case Reports

Gerstmann-Sträussler-Scheinker disease: A case report

Ming-Ming Zhao et al. World J Clin Cases. .

Abstract

Background: Gerstmann-Sträussler-Scheinker (GSS) disease is an inherited prion disease that is clinically characterized by the early onset of progressive cerebellar ataxia. The incidence of GSS is extremely low and it is particularly rare in China. Therefore, clinicians may easily confuse this disease with other diseases that also cause ataxia, resulting in its under-diagnosis or misdiagnosis.

Case summary: Here, we report the first case of genetically diagnosed GSS disease in Northeast China. The patient exhibited typical ataxia and dysarthria 2.5 years after symptom onset. However, magnetic resonance imaging of the brain and spinal cord revealed a normal anatomy. Screening results for the spinocerebellar ataxia gene were also negative. We thus proposed to expand the scope of genetic screening to include over 200 mutations that can cause ataxia. A final diagnosis of GSS was presented and the patient was followed for more than 3.5 years, during which we noted imaging abnormalities. The patient gradually exhibited decorticate posturing and convulsions. We recommended administration of oral sodium valproate, which resolved the convulsions.

Conclusion: Patients with inherited ataxia should be considered for a diagnosis of GSS via genetic testing at an early disease stage.

Keywords: Brain; Case report; Cerebellar ataxia; Diagnosis; Magnetic resonance imaging; Prion disease.

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Conflict of interest statement

Conflict-of-interest statement: The authors declare that they have no conflicts of interest.

Figures

Figure 1
Figure 1
Proband’s pedigree. Squares indicate men, circles indicate women, black symbols indicate affected individuals, diagonal lines across symbols indicate deceased individuals, and the arrow indicates the proband.
Figure 2
Figure 2
Gene mapping of the proband. A heterozygous mutation site was found in the 2nd exonic sequence of the PRNP gene (c.305; cytosine to thymine), resulting in a p.P102L amino acid change (valine to leucine).
Figure 3
Figure 3
Magnetic resonance imaging scans of the patient’s brain(A, B, D and E: Axial; C and F: Sagittal). A, B, and C: Brain magnetic resonance images were obtained 2.5 years after symptom onset. There are no obviously abnormal signals in the T2-weighted images (A, B) or diffusion weighted image (DWI) (C); D, E and F: Brain magnetic resonance images were obtained 5.5 years after the onset of symptoms. T2-weighted images (D, F) reveal high signal intensities in the basal ganglia, corona radiata, and paraventricular and semiovale centers; severe brain atrophy; and ventricular dilation. DWI imaging (E) reveals a diffuse symmetrical high signal in the bilateral cerebral cortex.
See this image and copyright information in PMC

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