An autopsied case of MM1-type sporadic Creutzfeldt-Jakob disease with pathology of Wernicke encephalopathy

Yasushi Iwasaki, Rina Hashimoto, Yufuko Saito, Ikuko Aiba, Akira Inukai, Akio Akagi, Maya Mimuro, Hiroaki Miyahara, Tetsuyuki Kitamoto, Mari Yoshida

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Abstract

An 83-year-old Japanese man presented with gait disturbance followed by rapidly-progressive cognitive impairment. Magnetic resonance diffusion-weighted images showed extensive hyperintense regions in the cerebral cortex. Four weeks after symptom onset, myoclonus appeared, and the patient developed difficulty swallowing; intravenous peripheral continuous infusions without vitamin supplementation were administered during the last two months of the patient’s life. The patient reached the akinetic mutism state and died 12 weeks after symptom onset due to sepsis. The brain weighed 940 g and showed general cerebral atrophy. Extensive spongiform change were observed in the cerebral cortex, striatum, thalamus, and cerebellar cortex, but gliosis was generally mild. Numerous newly-developed hemorrhage foci were observed in the mammillary body, the areas adjacent to the third and fourth ventricles, and the periaqueduct of the midbrain; however, proliferation of capillaries and endothelium and collections of macrophages were relatively inconspicuous. These findings suggested comorbidity with the acute stage of Wernicke encephalopathy (WE). Immunostaining showed extensive diffuse synaptic-type prion protein deposition in the gray matter. According to the neuropathological, genetic, and molecular findings, the present case was finally diagnosed as MM1-type sporadic Creutzfeldt-Jakob disease (CJD) with WE. We should remain alert to the diagnosis of WE when CJD is suspected, and it is necessary to consider the complications of both diseases. This report emphasizes the importance of pathological investigations for the diagnosis of CJD, WE, and the coexistence of both.

Original languageEnglish
Pages (from-to)13-20
Number of pages8
JournalPrion
Volume13
Issue number1
DOIs
Publication statusPublished - 2019 Jan 1

Keywords

  • Creutzfeldt-Jakob disease
  • Wernicke encephalopathy
  • mammillary body
  • spongiform change
  • thiamine deficiency

ASJC Scopus subject areas

  • Biochemistry
  • Cellular and Molecular Neuroscience
  • Cell Biology
  • Infectious Diseases

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  • Cite this

    Iwasaki, Y., Hashimoto, R., Saito, Y., Aiba, I., Inukai, A., Akagi, A., Mimuro, M., Miyahara, H., Kitamoto, T., & Yoshida, M. (2019). An autopsied case of MM1-type sporadic Creutzfeldt-Jakob disease with pathology of Wernicke encephalopathy. Prion, 13(1), 13-20. https://doi.org/10.1080/19336896.2018.1545525