A man who changed six spectacles: а case of Heidenhain variant of the Creutzfeldt–Jakob disease

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Creutzfeldt–Jakob Disease (CJD) is a rare and rapidly progressive condition. A 54-year-old professor initially presented with insidious, progressive visual symptoms. Imaging suggested post-infectious encephalitis, but symptoms progressed to ataxia, coordination difficulties, and cognitive decline. Repeat MRI revealed findings consistent with CJD, supported by clinical and electrophysiological evidence. Though 14-3-3 protein in CSF was inconclusive, Heidenhain variant CJD was strongly suspected. Isolated visual symptoms progressing rapidly alongside ataxia and dementia prompt suspicion of this variant. Clinical examination, neuroimaging, and EEG play crucial roles in the diagnosis.

作者简介

Ishwarya Thiruvuru

Sri Ramachandra Institute of Higher Education and Research

Email: madhandhoni@gmail.com
ORCID iD: 0009-0003-7261-5151

MD, senior resident, Department of neurology, Sri Ramachandra Institute of Higher Education and Research

印度, Porur, Chennai

Philo Hazeena

Sri Ramachandra Institute of Higher Education and Research

Email: philohazeena@yahoo.co.in
ORCID iD: 0000-0001-6221-431X

MD (DM Neuro), associate professor, Department of neurology, Sri Ramachandra Institute of Higher Education and Research

印度, Porur, Chennai

Rithvik Ramesh

Sri Ramachandra Institute of Higher Education and Research

编辑信件的主要联系方式.
Email: rithvy@gmail.com
ORCID iD: 0000-0002-4142-637X

MD (DM Neuro), assistant professor, Department of neurology, Sri Ramachandra Institute of Higher Education and Research

印度, Porur, Chennai

Sundar Shanmugam

Sri Ramachandra Institute of Higher Education and Research

Email: drradnus@gmail.com
ORCID iD: 0000-0002-6580-9017

MD (DM Neuro), Professor, Head, Department of neurology, Sri Ramachandra Institute of Higher Education and Research

印度, Porur, Chennai

Deepa Avadhani

Sri Ramachandra Institute of Higher Education and Research

Email: doctordeepaavadhani@gmail.com
ORCID iD: 0009-0004-0991-9563

MD (DM Neuro), Assistant professor, Department of neurology, Sri Ramachandra Institute of Higher Education and Research

印度, Porur, Chennai

参考

  1. Kropp S., Schulz-Schaeffer W.J., Finkenstaedt M. et al. The Heidenhain variant of Creutzfeldt–Jakob disease. Arch. Neurol. 1999;56(1):55–61. doi: 10.1001/archneur.56.1.55.
  2. Cooper S.A., Murray K.L., Heath C.A. et al. Isolated visual symptoms at onset in sporadic Creutzfeldt–Jakob disease: the clinical phenotype of the “Heidenhain variant”. Br. J. Ophthalmol. 2005;89(10):1341–1342. doi: 10.1136/bjo.2005.074856
  3. Cornelius J.R., Boes C.J., Ghearing G. et al. Visual symptoms in the Heidenhain variant of Creutzfeldt–Jakob disease. J. Neuroimaging. 2009;19(3):283–287. doi: 10.1111/j.1552-6569.2008.00294.x
  4. Keyrouz S.G., Labib B.T., Sethi R. MRI and EEG findings in Heidenhain variant of Creutzfeldt–Jakob disease. Neurology. 2006;67(2):333. doi: 10.1212/01.wnl.0000208487.18608.41
  5. Geschwind M.D., Martindale J., Miller D. et al. Challenging the clinical utility of the 14-3-3 protein for the diagnosis of sporadic Creutzfeldt–Jakob disease. Arch. Neurol. 2003;60(6):813-816. doi: 10.1001/archneur.60.6.813

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2. Fig. 1. Brain MRI (axial section, diffusion-weighted images; A, B) performed during the initial admission shows left occipito-parietal and parafalcine gyri form diffusion restriction (arrows). C — T2 FLAIR hyperintensity in the corresponding areas; D–F — subsequent brain MRI (diffusion-weighted sequences, axial section) done during the next admission show an increase of the gyriform diffusion restriction to involve the contralateral hemisphere and high frontoparietal region, sparing the perirolandic cortex.

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3. Fig. 2. Electroencephalogram recording of the patient in the average montage shows intermittent runs of short interval periodic triphasic discharges (arrows).

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版权所有 © Тирувуру А., Хазина Ф., Рамеш Р., Шанмугам С., Адвахани Д., 2024

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