Abstract
A case of Creutzfeldt–Jakob disease (CJD) with presenting Wernicke encephalopathy
(WE)-like symptoms and severe insomnia is presented. An 80-year-old alcoholic man
with a 6 month history of tremors, ataxia, memory loss and confabulation, developed
profound insomnia, confusion, and delirium with vivid hallucinations. Polysomnography
revealed a marked reduction of sleep time, with central-type sleep apnea. Neither
myoclonus nor periodic synchronous discharge (PSD) was observed. An autopsy revealed
diffuse spongiform changes and astrocytosis throughout the cerebral gray matter, with
severe involvement of the mammillary bodies and thalamus. Prion protein (PrP) immunostaining
was positive in kuru plaques in the cerebellum, PrP polymorphism at codon 129 was
heterozygous Met/Val, and proteinase K resistant PrP (PrPres) was demonstrated by Western blotting. The lack of necrotizing lesions in the mammillary
bodies, thalamus, and periaqueductal gray matter could rule out WE. The data suggest
that the present case of CJD is consistent with PrPres type 2 (CJD M/V 2), but was unique in the lack of some typical CJD signs and the
presence of signs of WE and sleep abnormalities.
Keywords
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References
- Human spongiform encephalopathy: the National Institutes of Health series of 300 cases of experimentally transmitted disease.Ann Neurol. 1994; 35: 513-529
- Fatal insomnia in a case of familial Creutzfeldt–Jakob disease with the codon 200(Lys) mutation.Neurology. 1996; 46: 758-761
- Creutzfeldt–Jakob disease patients with congophilic kuru plaques have the missense variant prion protein common to Gerstmann–Sträussler syndrome.Ann Neurol. 1990; 27: 121-126
- CJD discrepancy.Nature. 1991; 353: 801-802
- Fatal familial insomnia and familial Creutzfeldt–Jakob disease: clinical, pathological and molecular features.Brain Pathol. 1995; 5: 43-51
- Jakob–Creutzfeldt disease associated with Wernicke encephalopathy.Can J Neurol Sci. 1988; 15: 156-160
- Wernicke–Korsakoff syndrome.in: Graham D.I. Lantos P.L. Greenfield’s neuropathology. 6th. Arnold, London1997: 604-611
- Do Creutzfeldt–Jakob disease patients of Jewish Libyan origin have unique clinical features?.Neurology. 1991; 41: 1390-1392
- Thalamic form of Creutzfeldt–Jakob disease or fatal insomnia? Report of a sporadic case with normal prion protein genotype.Acta Neuropathol. 1997; 93: 317-322
- Immunohistochemical confirmation of Creutzfeldt–Jakob disease with a long clinical course with amyloid plaque core antibodies.Am J Pathol. 1988; 131: 435-443
- Organ distribution of protease-resistant prion protein in humans and mice with Creutzfeldt–Jakob disease.J Gen Virol. 1989; 70: 3371-3379
- Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei.N Engl J Med. 1986; 315: 997-1003
- Sleep apnea with unusual EEG changes in Jakob–Creutzfeldt disease.Electroencephalogr Clin Neurophysiol. 1983; 55: 411-416
- Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene.N Engl J Med. 1992; 326: 444-449
- Creutzfeldt–Jakob disease with codon 129 polymorphism (valine): a comparative study of patients with codon 102 point mutation or without mutations.Acta Neuropathol. 1992; 84: 349-354
- Fatal familial insomnia with a mutation at codon 178 of the prion protein gene: first report from Japan.Neurology. 1996; 47: 1313-1316
- Molecular basis of phenotypic variability in sporadic Creutzfeldt–Jakob disease.Ann Neurol. 1996; 39: 767-778
- Creutzfeldt–Jakob disease presenting as Wernicke–Korsakoff syndrome.J Neurol Sci. 1992; 108: 149-153
- Human prion diseases.Ann Neurol. 1994; 35: 385-395
- The nosology of Creutzfeldt–Jakob disease and conditions related to the accumulation of PrPCJD in the nervous system.Brain Pathol. 1995; 5: 33-41
- Molecular cloning. 2nd. Cold Spring Harbor Laboratory Press, Cold Spring Harbor1989
- First experimental transmission of fatal familial insomnia.Nature. 1995; 376: 434-435
- Altered circadian activity rhythms and sleep in mice devoid of prion protein.Nature. 1996; 380: 639-642
- Obstructive sleep dyspnea. Diagnosis and treatment.Acta Otolaryngol Suppl (Stockholm). 1988; 458: 167-173
Article info
Publication history
Accepted:
January 18,
1999
Received in revised form:
January 8,
1999
Received:
June 16,
1998
Identification
Copyright
© 1999 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
