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
Abstract
BACKGROUND

Late infantile ceroid lipofuscinosis is a rare neurodegenerative disorder that appears between the ages of 2 and 4 years and is difficult to diagnose. In this report we present two sisters with this condition, and the clinical course consisted of delayed developmental skills initially and later regression of previously acquired skills. The cases were initially considered as childhood disintegrative disorder (CDD); however, when whole exome sequencing (WES) genetic testing was done, they proved to be variant late infantile ceroid lipofuscinosis. This is the first report from Jordan.

CASE SUMMARY

Clinical presentation included developmental delay and initially speech delay, followed by lose of sphincter control. Motor development was normal until 4 years of age, then they developed ataxia (fear of going downstairs) and weakness while walking. Atonic and myoclonic seizures become intractable, and this was followed by inability to stand or sit and loss of expressive language. In addition to complete blood count test, liver function test, kidney function test, serum electrolyte test, and blood sugar test, serum amino acid profile, B12 level test, thyroid function test, and a brain computed tomography scan were also normal. An electroencephalogram showed a generalized spike and wave pattern, and magnetic resonance imaging showed little to no abnormalities. After dealing with the cases as CDD, WES testing proved a final diagnosis of variant late infantile ceroid lipofuscinosis. Current treatment is anti-epileptic drugs and supportive care at home, and they are now in vegetative state.

CONCLUSION

This report highlights the importance of WES for the identification of genetic diseases, especially neurodegenerative disorders.

Keywords: Ceroid lipofuscinosis, Childhood disintegrative disorder, Lysosomal storage disorders, Neurodegenerative disorders, Variant late infantile, Case report

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.