Case Report
Copyright ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jan 26, 2019; 7(2): 203-208
Published online Jan 26, 2019. doi: 10.12998/wjcc.v7.i2.203
Two cases of variant late infantile ceroid lipofuscinosis in Jordan
Omar Nafi, Bashar Ramadan, Olaf Riess, Rebecca Buchert, Tawfiq Froukh
Omar Nafi, Bashar Ramadan, Department of Pediatrics, Faculty of Medicine, Mutah University, Al Karak 61710, Jordan
Olaf Riess, Rebecca Buchert, Institute of Medical Genetics and Applied Genomics, Rare Disease Center, University of Tübingen, Tübingen 72076, Germany
Tawfiq Froukh, Department of Biotechnology and Genetic Engineering, Philadelphia University, Amman 11118, Jordan
Author contributions: Nafi O was the treating physician, designed the report, collected the patients’ data, and reviewed the paper; Ramadan B collected the patients’ data, designed the report, and wrote the paper; Riess O and Rebecca B performed genetic testing and reviewed the paper; Froukh T visited the patients at home, collected genetic samples, and revised the paper.
Informed consent statement: Consent was obtained from parents of the patients for publication of this report.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest.
CARE Checklist (2016) statement: The guidelines of the CARE Checklist have been adopted.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Omar Nafi, MD, Associate Professor, Department of Pediatrics, Faculty of Medicine, Mutah University, Al Karak 61710, Jordan. omarnafi@mutah.edu.jo
Telephone: +962-79-6548783 Fax: +96-23-239718
Received: September 16, 2018
Peer-review started: September 18, 2018
First decision: October 25, 2018
Revised: November 26, 2018
Accepted: December 14, 2018
Article in press: December 15, 2018
Published online: January 26, 2019
Core Tip

Core tip: Neuronal ceroid lipofuscinoses are a collection of neurodegenerative lysosomal storage disorders that are typically inherited in an autosomal recessive manner. In this case, we present the first incidence of this disorder in Jordan. It appears to have affected two siblings who experienced a slightly different clinical course from that which has typically been reported. This report also highlights the importance of whole exome sequencing for the identification of genetic causes of disease.