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Case Report of an Unusual Stroke-like Creutzfeldt - Jakob disease with Medulla Oblongata Motor Nuclei Lesion

Cheng-fang Huang, Xi Chen, Dan Jiang, Hua-li Wang, Hong-hua JIN, Wei Yang, Jun Peng, Jie Liu and Hong Zhang 

Background: The reports of long-term imaging traces for sporadic Creutzfeldt–Jakob disease (sCJD) have been rare to date, although diffusion-weighted imaging (DWI) has high sensitivity and specificity in the diagnosis of sCJD in the early stage of disease. And sCJD-associated neuropathologic brainstem abnormalities on DWI are considered uncommon. Here, we provided a sequential neuroimaging of a late-onset sCJD with medulla oblongata motor nuclei lesion.
Case presentation: We report the case of a 77-year-old woman who presented a typical late-onset sCJD clinical manifestation including rapidly progressive dementia, ataxia, and myoclonus, except vision loss. 14-3-3 protein of CSF was found to be positive, blood gene test detected that the polymorphism at codon 129 was M/M subtypes, genotyping the human prion protein gene (PRNP) did not reveal mutations related to hereditary CJD. The hyperintensity was found only in the bilateral cerebral cortices on initial DWI. One month later, increased basal ganglia signal in addition to cortical hyperintensity was found on the follow-up image, which was not consistent with the more frequently MRI profile of sCJD patients over 75 years old. PET/CT imaging detected extra regions with abnormalities as the left thalamus in addition to the hyperintense areas shown on DWI. MRS did not show abnormal metabolism in some areas of DWI abnormalities, but abnormal areas in MRS were accompanied by DWI abnormally high signal. In the late stage, disappearance of abnormal hyperintense lesions on DWI was observed. And very rare clinic characteristic is the subacute and focal involvement of right IX, X and XII nuclei, with abnormalities in the right of medulla oblongata on magnetic resonance imaging (MRI) and DWI from early to late stage, clinical manifestation showing weak pharyngeal reflex, tongue to left, and uvula to left at early stage, suggesting a medulla ischemic event. Sequential electroencephalography recordings showed no characteristic PSWCs in the whole course of the disease.
Conclusion: The rapidly progressive clinical course with dementia, ataxia, and myoclonus plus corroborative neuroimaging and spinal fluid findings confirmed a clinicoradiographic diagnosis of Creutzfeldt-Jacob disease. This is an unusual report of an initial clinical presentation involvement of right IX, X and XII nuclei lesions of sCJD, expanding the known clinical spectrum of prion disease presentations.