Introduction: Sporadic Creutzfeldt-Jakob disease (sCJD) is a transmissible disorder of the central nervous system caused by the transformation of normal prion protein into an abnormal misfolded form. The process begins spontaneously and runs a vicious cycle to cause spongiform encephalopathy, rapidly resulting in death. Amply described in the western literature, CJD is scarcely reported in Asia due to certain limitations including missed diagnosis, under-reporting, and rarity of the disease. Brain MRI, electroencephalogram, cerebrospinal fluid testing, and biopsy of the infected brain tissue support the diagnosis in cases of clinical suspicion. However, the diagnosis can still be made with limited available resources in developing countries. Method: A review of CJD cases evaluated in the neurology department of a tertiary care hospital in Pakistan was done from 2002 to 2018. Results: Eleven cases labeled as sCJD are identified based on the European MRI-CJD consortium criteria. This is the first study on CJD from Pakistan, which includes both the typical and atypical presentations. Conclusion: Even with limited testing available, the diagnosis of CJD can be made with confidence in the developing countries, provided the suspicion is kept high in cases of rapid onset dementia and acute behavioral changes.

1.
Diener
TO
,
McKinley
MP
,
Prusiner
SB
.
Viroids and prions
.
Proc Natl Acad Sci U S A
.
1982 Sep
;
79
(
17
):
5220
4
. .
2.
Colby
DW
,
Prusiner
SB
.
Prions
.
Cold Spring Harb Perspect Biol
.
2011 Jan 1
;
3
(
1
):
a006833
. .
3.
Zerr
I
,
Kallenberg
K
,
Summers
DM
,
Romero
C
,
Taratuto
A
,
Heinemann
U
, et al.
Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease
.
Brain
.
2009 Oct
;
132
(
Pt 10
):
2659
68
. .
4.
Geschwind
MD
.
Prion diseases
.
Continuum
.
2015 Dec
;
21
(
6 Neuroinfectious Disease
):
1612
38
.
5.
Uttley
L
,
Carroll
C
,
Wong
R
,
Hilton
DA
,
Stevenson
M
.
Creutzfeldt-Jakob disease: a systematic review of global incidence, prevalence, infectivity, and incubation
.
Lancet Infect Dis
.
2020 Jan
;
20
(
1
):
e2
e10
. .
6.
Haider
E
,
Wali
W
,
Raja
S
,
Tariq
M
.
Creutzfeldt Jakob disease
.
J Coll Physicians Surg Pak
.
2013 Apr
;
23
(
4
):
295
7
. .
7.
Ahmad
A
,
Rao
F
,
Aieshah
S
.
Two cases of Creutzfeldt-Jakob disease from an ongoing dementia registry in Pakistan
.
J Pak Med Assoc
.
2014 Jun
;
64
(
6
):
705
7
.
8.
Shahid
RSS
.
Biopsy proven case of Creutzfeldt-Jakob disease from Pakistan
.
Pak J Neurol Sci
.
2018
;
13
(
1
):
32
4
.
9.
Muayqil
T
,
Gronseth
G
,
Camicioli
R
.
Evidence-based guideline: diagnostic accuracy of CSF 14-3-3 protein in sporadic Creutzfeldt-Jakob disease: report of the guideline development subcommittee of the American Academy of Neurology
.
Neurology
.
2012 Oct 2
;
79
(
14
):
1499
506
.
10.
Rudge
P
,
Hyare
H
,
Green
A
,
Collinge
J
,
Mead
S
.
Imaging and CSF analyses effectively distinguish CJD from its mimics
.
J Neurol Neurosurg Psychiatry
.
2018 May
;
89
(
5
):
461
6
. .
11.
Shamsi
U
,
Khan
S
,
Azam
I
,
Usman
S
,
Maqbool
A
,
Gill
T
, et al.
Patient delay in breast cancer diagnosis in two hospitals in Karachi, Pakistan: preventive and life-saving measures needed
.
JCO Glob Oncol
.
2020 Jun
;
6
:
873
83
. .
12.
Heidenhain
A
.
Klinische und anatomische Untersuchungen über eine eigenartige organische Erkrankung des Zentralnervensystems im Praesenium
.
Z Ges Neurol Psychiatry
.
1929
;
118
(
1
):
49
114
.
13.
Kalp
M
,
Gottschalk
CH
.
Mystery case: heidenhain variant of Creutzfeldt-Jakob disease
.
Neurology
.
2014 Nov 25
;
83
(
22
):
e187
. .
14.
Baiardi
S
,
Capellari
S
,
Ladogana
A
,
Strumia
S
,
Santangelo
M
,
Pocchiari
M
, et al.
Revisiting the heidenhain variant of creutzfeldt-jakob disease: evidence for prion type variability influencing clinical course and laboratory findings
.
J Alzheimers Dis
.
2016
;
50
(
2
):
465
76
. .
15.
Pocchiari
M
,
Puopolo
M
,
Croes
EA
,
Budka
H
,
Gelpi
E
,
Collins
S
, et al.
Predictors of survival in sporadic Creutzfeldt-Jakob disease and other human transmissible spongiform encephalopathies
.
Brain
.
2004 Oct
;
127
(
Pt 10
):
2348
59
. .
16.
Javed
Q
,
Alam
F
,
Krishna
S
,
Jaganathan
G
.
An unusual case of sporadic Creutzfeldt-Jakob disease (CJD)
.
BMJ Case Rep
.
2010 May 13
;
2010
. .
17.
Collins
SJ
,
Sanchez-Juan
P
,
Masters
CL
,
Klug
GM
,
van Duijn
C
,
Poleggi
A
, et al.
Determinants of diagnostic investigation sensitivities across the clinical spectrum of sporadic Creutzfeldt-Jakob disease
.
Brain
.
2006 Sep
;
129
(
Pt 9
):
2278
87
. .
18.
Nagoshi
K
,
Sadakane
A
,
Nakamura
Y
,
Yamada
M
,
Mizusawa
H
.
Duration of prion disease is longer in Japan than in other countries
.
J Epidemiol
.
2011
;
21
(
4
):
255
62
. .
19.
Kwon
GT
,
Kwon
MS
.
Diagnostic challenge of rapidly progressing sporadic Creutzfeldt-Jakob disease
.
BMJ Case Rep
.
2019 Sep 24
;
12
(
9
):
e230535
. .
20.
Kallenberg
K
,
Schulz-Schaeffer
WJ
,
Jastrow
U
,
Poser
S
,
Meissner
B
,
Tschampa
HJ
, et al.
Creutzfeldt-Jakob disease: comparative analysis of MR imaging sequences
.
AJNR Am J Neuroradiol
.
2006 Aug
;
27
(
7
):
1459
62
.
21.
Satoh
K
,
Shirabe
S
,
Tsujino
A
,
Eguchi
H
,
Motomura
M
,
Honda
H
, et al.
Total tau protein in cerebrospinal fluid and diffusion-weighted MRI as an early diagnostic marker for Creutzfeldt-Jakob disease
.
Dement Geriatr Cogn Disord
.
2007
;
24
(
3
):
207
12
. .
22.
Saad
S
,
Badshah
M
,
Irshad
M
.
Can characteristic MRI brain substitute invasive lumbar puncture search for 14-3-3 Immunoassay For Creutzfeldt Jakob Disease? Suggestions from a case study
.
J Coll Physicians Surg Pak
.
2017 Feb
;
27
(
2
):
114
5
.
23.
Green
AJE
.
RT-QuIC: a new test for sporadic CJD
.
Pract Neurol
.
2019 Feb
;
19
(
1
):
49
55
. .
24.
Sikorska
B
,
Knight
R
,
Ironside
JW
,
Liberski
PP
.
Creutzfeldt-Jakob disease
.
Adv Exp Med Biol
.
2012
;
724
:
76
90
. .
25.
Sajid
MI
.
Autopsy in islam: considerations for deceased muslims and their families currently and in the future
.
Am J Forensic Med Pathol
.
2016 Mar
;
37
(
1
):
29
31
. .
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.