Gerstmann-Sträussler-Scheinker disease: A case report.
Brain
Case report
Cerebellar ataxia
Diagnosis
Magnetic resonance imaging
Prion disease
Journal
World journal of clinical cases
ISSN: 2307-8960
Titre abrégé: World J Clin Cases
Pays: United States
ID NLM: 101618806
Informations de publication
Date de publication:
06 Feb 2019
06 Feb 2019
Historique:
received:
19
10
2018
revised:
24
12
2018
accepted:
29
12
2018
entrez:
13
2
2019
pubmed:
13
2
2019
medline:
13
2
2019
Statut:
ppublish
Résumé
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. 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. Patients with inherited ataxia should be considered for a diagnosis of GSS
Sections du résumé
BACKGROUND
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
METHODS
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
CONCLUSIONS
Patients with inherited ataxia should be considered for a diagnosis of GSS
Identifiants
pubmed: 30746381
doi: 10.12998/wjcc.v7.i3.389
pmc: PMC6369391
doi:
Types de publication
Case Reports
Langues
eng
Pagination
389-395Déclaration de conflit d'intérêts
Conflict-of-interest statement: The authors declare that they have no conflicts of interest.
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