Journal of Neurology, Neurosurgery, and Psychiatry 2006;77:413-416; doi:10.1136/jnnp.2005.070805
SHORT REPORT |
1 Institute of Neurology, Medical University
Vienna, Austria
2 Austrian Reference Centre for Human Prion Diseases (OERPE),
General Hospital Vienna, Austria
3 Department of Neurology, LKH Rankweil, Austria
4 Department of Neurology, Medical University Innsbruck,
Innsbruck, Austria
Correspondence to:
Dr H Budka
Institute of Neurology, Medical University of Vienna, Waehringer Guertel
18-20, 4J, 1097 Vienna, Austria;
herbert.budka@kin.at
ABSTRACT
We report the case of a 28 year old man who had received a cadaverous
dura mater graft after a traumatic open skull fracture with
tearing of the dura at the age of 5 years. A clinical suspicion
of Creutzfeldt-Jakob disease (CJD) was confirmed by a brain
biopsy 5 months prior to death and by autopsy, thus warranting
the diagnosis of iatrogenic CJD (iCJD) according to WHO criteria.
Immunohistochemistry showed widespread cortical depositions of
disease associated prion protein (PrPsc) in a synaptic pattern,
and western blot analysis identified PrPsc of type 2A
according to Parchi et al. Surprisingly, we found
Alzheimer-type senile plaques and cerebral amyloid angiopathy in
widespread areas of the brain. Plaque-type and vascular amyloid
was immunohistochemically identified as deposits of beta-A4
peptide. CERAD criteria for diagnosis of definite Alzheimer’s
disease (AD) were met in the absence of neurofibrillar tangles or
alpha-synuclein immunoreactive inclusions. There was no family
history of AD, CJD, or any other neurological disease, and
genetic analysis showed no disease specific mutations of the
prion protein, presenilin 1 and 2, or amyloid precursor protein
genes. This case represents (a) the iCJD case with the
longest incubation time after dural grafting reported so far, (b)
the youngest documented patient with concomitant CJD and
Alzheimer-type neuropathology to date, (c) the first
description of Alzheimer-type changes in iCJD, and (d) the
second case of iCJD in Austria. Despite the young patient age,
the Alzheimer-type changes may be an incidental finding, possibly
related to the childhood trauma.
http://jnnp.bmj.com/cgi/content/abstract/77/3/413