E200k Familial Creutzfeldt-Jakob Disease Presenting with Subacute Multiple Cranial Neuropathy

C. Lapucci1, *, N. Romano2, G. Boffa1, 3, L. Saitta4, F. Nobili1, 3, G.L. Mancardi1, 3, P. Mandich1, M. Grandis1, 3
1 Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genova, Genoa, Italy
2 Department of Health Sciences (DISSAL), University of Genoa, Genoa, Italy
3 Department of Neurology, Ospedale Policlinico San Martino IRCCS, Genoa, Italy
4 Department of Neuroradiology, Ospedale Policlinico San Martino IRCCS, Genoa, Italy


Unusual clinical presentations in patients with E200K familial Creutzfeldt-Jakob Disease (fCJD) have been rarely reported. Herein, we described a case of E200K fCJD presenting with subacute cranial multiple neuropathy, initially suspected to be paraneoplastic or due to a leptomeningeal carcinomatosis, considering the neoplastic comorbidity of the patient. Surprisingly, brain MRI was highly suggestive of CJD. Brain histological examination confirmed the diagnosis. Genetic tests led to the definite diagnosis of E200K fCJD. To the best of our knowledge, the current case provides the first report of a histologically-confirmed E200K fCJD starting with cranial multiple neuropathy and may widen the spectrum of the clinical variability of CJD, also in its genetic variant. Unusual presentations may lead, as in this case, to incorrect diagnostic hypothesis and unuseful therapeutic attempts in the first phase of the diagnostic process. Also in the genetic variant of CJD, brain MRI demonstrated a very high sensitivity to detect the typical abnormalities since the earliest phases of the disease.

Keywords: Creutzfeldt Jacob disease, Familial, E200K, Multiple cranial neuropathy, MRI, 18F-fluoro-D-glucose positron emission tomography.

Abstract Information

Identifiers and Pagination:

Year: 2019
Volume: 13
Publisher Item Identifier: EA-TONEUJ-2019-2

Article History:

Received Date: 17/01/2019
Revision Received Date: 20/03/2019
Acceptance Date: 04/04/2019
Electronic publication date: 02/05/2019
Collection year: 2019

© 2019 Lapucci et al.

open-access license: This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International Public License (CC-BY 4.0), a copy of which is available at: https://creativecommons.org/licenses/by/4.0/legalcode. This license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Correspondence: Address correspondence to this author at the Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genova, Ospedale Policlinico San Martino IRCCS, Largo P. Daneo, 3, 16132, Genoa, Italy; Tel: +39 0103537075; fax +39 01035338751; Email: lapucci.caterina@alice.it