JOURNAL
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May 2023 -
Volume 21, Issue 4


View this issue in pdf format

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From the Editor

Editorial
A. Abyad (Chief Editor)
Mobile: 961-3-201901
Email: amcmeli@gmail.com, aabyad@cyberia.net.lb

Publisher
Lesley Pocock
lesleypocock@mediworld.com.au
publishermwi@gmail.com
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Original Contribution

Prevalence of depressive symptoms and its predictive factors among male medical students in University of Bisha, Saudi Arabia
[Abstract]
[pdf]
Abdullah M. Alshahrani, Mohammad S. Al-Shahrani, Muffarah H. Alharthi, Mohannad S. Alamri, Mutasim E. Ibrahim
DOI: 10.5742/MEWFM.2023.95256086

Pemphigus: Clinical study of 68 patients 5 years ago in Aden, Yemen
Amer Omer Bin Al-Zou
[Abstract]
[pdf]
DOI: 10.5742/MEWFM.2023.95256088

Investigating Compliance with Insulin Injection Regimens among Diabetic Patients in Najran Armed Forces Hospital
[Abstract]
[pdf]
Metrek Almetrek, Saad Alghamdi, Ali Alhajri, Eisa Ghazwani, HebatAllah Hamdi, Mohmmed Ibrahim, Abeer Salih, Asma Alwadai
DOI: 10.5742/MEWFM.2023.95256102

Regional Covid

Arthralgia and Soft Tissue Swelling Post Covid-19
[Abstract]
[pdf]
Juwairia Hashmi, Kader Mutluer
DOI: 10.5742/MEWFM.2023.95256087

Case Studies

An Unusual Presentation of Acute Pancreatitis:
Case Report Study
[Abstract]
[pdf]
Aza Ziyada, Reem Hassan, Mansour Elmahdi
DOI: 10.5742/MEWFM.2023.95256089

Death of a child in family medicine clinic - a case report
[Abstract]
[pdf]
Bilal Hasan Chaudhry, Imran Ahmad
DOI: 10.5742/MEWFM.2023.95256091

Smoking after a heart attack - a case report
[Abstract]
[pdf]
Laith AlMarsomi, Bilal Hasan
DOI: 10.5742/MEWFM.2023.95256092

Mutations in ZBTB20 cause Primrose syndrome in a Pediatric Patient: A Case Report
[Abstract]
[pdf]
Fawzia Alsharif, Maha A. Elfaramawy, Mohammed F. Alamer, Aman M. Diqarshawi, Sabah S. Shaikh, Mariam AbouTouk, Aljohara S. Alsuhaili, Banan B. Julaidan, Aseel E Ghorab, Hafsat M. Ahmed, Ayoub S Albahrani, Amnah A Alomran, Batool A Alshehab, Ghosoun Anas Moallem
DOI: 10.5742/MEWFM.2023.95256093

Irritable bowel or irritated by lactose?
[Abstract]
[pdf]
Mohammed Asif
DOI: 10.5742/MEWFM.2023.95256094

The manifestations of asthma in a child with Williams Syndrome
[Abstract]
[pdf]
Hanaa Hamadallah
DOI: 10.5742/MEWFM.2023.95256096

Population and Community Studies

An assessment of parents' knowledge, awareness and practice regarding paracetamol use in children
[Abstract]
[pdf]
Manal Abdulaziz Murad, Murad A. Yasawy, Doha Hantoush, Renad Marghalani, Zinab Ali Khamis, Amirah K. Bantan, Manahel saud khayat, Safia Majdi EL-Qaisi
DOI: 10.5742/MEWFM.2023.95256100

Review

Predictors of Patients' Satisfaction with Primary Health Care Services at Kingdom of Saudi Arabia: A Systematic Review
[Abstract]
[pdf]
Abdullah M. Alshahrani
DOI: 10.5742/MEWFM.2023.9525610

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Middle East Quality Improvement Program
(MEQUIP QI&CPD)

Chief Editor -
Abdulrazak Abyad MD, MPH, MBA, AGSF, AFCHSE
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Editorial Office -
Abyad Medical Center & Middle East Longevity Institute
Azmi Street, Abdo Center,
PO BOX 618
Tripoli, Lebanon
Phone: (961) 6-443684
Fax:     (961) 6-443685
Email: aabyad@cyberia.net.lb
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Publisher -
Lesley Pocock
medi+WORLD International
AUSTRALIA
Email: lesleypocock@mediworld.com.au
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Editorial Enquiries -
abyad@cyberia.net.lb
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Advertising Enquiries -
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While all efforts have been made to ensure the accuracy of the information in this journal, opinions expressed are those of the authors and do not necessarily reflect the views of The Publishers, Editor or the Editorial Board. The publishers, Editor and Editorial Board cannot be held responsible for errors or any consequences arising from the use of information contained in this journal; or the views and opinions expressed. Publication of any advertisements does not constitute any endorsement by the Publishers and Editors of the product advertised.

The contents of this journal are copyright. Apart from any fair dealing for purposes of private study, research, criticism or review, as permitted under the Australian Copyright Act, no part of this program may be reproduced without the permission of the publisher.
May 2023- Volume 21, Issue 4

Mutations in ZBTB20 cause Primrose syndrome in a Pediatric Patient: A Case Report

Fawzia Alsharif1, Maha A. Elfaramawy1, Mohammed F. Alamer2, Aman M. Diqarshawi2, Sabah S. Shaikh3, Mariam AbouTouk2, Aljohara S. Alsuhaili2, Banan B. Julaidan4, Aseel E Ghorab3, Hafsat M. Ahmed2, Ayoub S Albahrani5, Amnah A Alomran5, Batool A Alshehab6, Ghosoun Anas Moallem2

(1) Consultant, Department of Pediatrics, Saudi German Hospital Jeddah, Saudi Arabia
(2) Medical College, Batterjee Medical College, Jeddah, Saudi Arabia.
(3) Medical Intern, Medical College, Batterjee Medical College, Jeddah, Saudi Arabia
(4) Medical Student, Ibn Sina medical college, Jeddah, Saudi Arabia
(5) Medical Intern, Medical College, Dar Al Uloom University, Riyadh, Saudi Arabia
(6) Medical student, Medical College, King Faisal University, Alhasa, Saudi Arabia

Corresponding author:
Dr. Fawzia Alsharif
Consultant, Department of Pediatrics, Saudi German Hospital Jeddah, Saudi Arabia
Phone: +966 50 566 4413
Email: Fawz3.med@gmail.com

Received: March 2023. Accepted: April 2023; Published: May 1, 2023.Citation: Fawzia Alsharif et al. Mutations in ZBTB20 cause Primrose syndrome in a Pediatric Patient: A Case Report. World Family Medicine. May 2023; 21(4): 42-44 DOI: 10.5742/MEWFM.2023.95256093


Abstract


Background: Macrocephaly, hypotonia, developmental delay, intellectual disability with delayed expressive speech, behavioral issues, a distinct facial phenotype, radiographic abnormalities, and impaired glucose metabolism are characteristics of the Primrose syndrome. As a result, Primrose syndrome is identified in a proband with typical symptoms and a heterozygous pathogenic mutation in ZBTB20 identified by molecular genetic testing.

Case presentation: A seven-year-old girl presented with a history of not speaking consistently, snoring and mouth breathing. The patient was responding to sound and there was presence of adenoid hypertrophy. Four years later, the patient presented with developmental delay, delayed speech and problem sleeping. Whole exome sequencing (WES) was done and the result showed a likely heterozygous pathogenic variant, c.11+1del, in the ZBTB20 gene. As advised, management includes educational programs, physiotherapy, speech therapy, and occupational therapy.

Conclusion: Patients must have their growth and development followed every six months, their speech and developmental needs evaluated every six months, their behavioural issues, neurological, and musculoskeletal conditions evaluated at every visit, their brain stem evoked response audiometry evaluated annually, and their thyroid function and insulin-resistant diabetes tested annually.

Keywords: Heterozygous, Mutation, ZBTB20, Primrose, syndrome, Jeddah






 


 
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