22 December 2006
Atypical features of dementia in a patient with Creutzfeldt-Jakob disease
Maria Pąchalska, Henryk Kurzbauer, Maria Formińska-Kapuścik, Andrzej Urbanik, Grażyna Bierzyńska-Macyszyn, Paweł WłaszczukMed Sci Monit 2007; 13(1): CS9-19 :: ID: 470152
Abstract
Background: This article describes a Polish patient (female, right-handed, age 68 at onset) diagnosed with the Heidenhain variant of Creutzfeldt-Jakob Disease (HvCJD), characterized clinically by isolated visual
disturbances with no ocular dysfunction prior to the development of myoclonus and other symptoms of CJD.
Case Report: Nothing in the history pointed to iatrogenic or acquired CJD, and genetic testing ruled out familial CJD. The neuroradiological picture (MRI) showed non-specifi c features of cerebral atrophy (cortical and subcortical). An EEG revealed periodic triphasic sharp waves, particularly in the occipital
lobes, and myoclonus occurring synchronically with generalized periodic epileptiform discharges. Comprehensive neuropsychological testing documented rapidly progressive dementia, with dysgraphia and aphasia deteriorating to organic mutism. Post-mortem neuropathological examination
confi rmed spongiform encephalopathy, especially in occipital cortex, with amyloid plaques but without neurofi brillary tangles.
Conclusions: Over the crucial 6-week period the patient went from “Mild Cognitive Impairment” to a status resembling the fi nal stages of Alzheimer’s disease, without any evidence of a CVA. The only aspect of this case that does not fi t the usual criteria for the Heidenhain variant is the fact that the patient survived over a year in a persistent vegetative state. Ophthalmologists and family physicians should be aware of the possibility of HvCJD in any patient over 60 presenting with otherwise inexplicable visual disturbances in the absence of signifi cant ocular pathology, even when other symptoms
of dementia may not be immediately noticeable.
Keywords: Brain - radiography, Creutzfeldt-Jakob Syndrome - complications, Dementia - pathology, Diagnostic Techniques, Ophthalmological, Fatal Outcome, Hemianopsia - diagnosis, Magnetic Resonance Imaging, Neuropsychological Tests
Editorial
01 May 2024 : Editorial
Editorial: First Regulatory Approval for Adoptive Cell Therapy with Autologous Tumor-Infiltrating Lymphocytes (TILs) – Lifileucel (Amtagvi)DOI: 10.12659/MSM.944927
Med Sci Monit 2024; 30:e944927
In Press
16 Mar 2024 : Clinical Research
Diagnostic Efficiency of ACR-TIRADS Score for Differentiating Benign and Malignant Thyroid Nodules of Vario...Med Sci Monit In Press; DOI: 10.12659/MSM.943228
08 May 2024 : Clinical Research
Effect of Individualized PEEP Guided by Driving Pressure on Diaphragm Function in Patients Undergoing Lapar...Med Sci Monit In Press; DOI: 10.12659/MSM.944022
21 Mar 2024 : Clinical Research
Impact of Serum Vitamin D, B6, and B12 and Cognitive Functions on Quality of Life in Peri- and Postmenopaus...Med Sci Monit In Press; DOI: 10.12659/MSM.943249
17 Mar 2024 : Clinical Research
Protective Role of TRPC3 Gene Polymorphism (rs10518289) in Obstructive Sleep Apnea Hypopnea Syndrome Among ...Med Sci Monit In Press; DOI: 10.12659/MSM.942667
Most Viewed Current Articles
17 Jan 2024 : Review article
Vaccination Guidelines for Pregnant Women: Addressing COVID-19 and the Omicron VariantDOI :10.12659/MSM.942799
Med Sci Monit 2024; 30:e942799
14 Dec 2022 : Clinical Research
Prevalence and Variability of Allergen-Specific Immunoglobulin E in Patients with Elevated Tryptase LevelsDOI :10.12659/MSM.937990
Med Sci Monit 2022; 28:e937990
16 May 2023 : Clinical Research
Electrophysiological Testing for an Auditory Processing Disorder and Reading Performance in 54 School Stude...DOI :10.12659/MSM.940387
Med Sci Monit 2023; 29:e940387
01 Jan 2022 : Editorial
Editorial: Current Status of Oral Antiviral Drug Treatments for SARS-CoV-2 Infection in Non-Hospitalized Pa...DOI :10.12659/MSM.935952
Med Sci Monit 2022; 28:e935952