Case Report
Volume: 5 | Issue: 2 | Published: Dec 12, 2022 | Pages: 48 - 52 | DOI: 10.24911/JBCGenetics/183-1665949143
NTRK2-Related Obesity, Hyperphagia, and Developmental Delay: Case Report
Authors: Anwar Ramadan Alhamas , Amal Mohammed Alhashem , Ali Alasmari , Eissa Ali Faqeih
Article Info
Authors
Anwar Ramadan Alhamas
1Maternal and Children hospital in Alahsaa, King Fahad Medical City (KFMC)
Amal Mohammed Alhashem
2Division of medical genetic and metabolic medicine, Department of Pediatrics, Prince Sultan Military Medical City,Riyadh,Saudi Arabia, College of Medicine,Alfaisal University
Ali Alasmari
Department of Pediatrics, Children's Specialist Hospital,King Fahad Medical City (KFMC)
Eissa Ali Faqeih
Department of Pediatrics, Children's Specialist Hospital,King Fahad Medical City (KFMC)
Publication History
Received: October 17, 2022
Revised: November 09, 2022
Accepted: November 15, 2022
Published: December 12, 2022
Abstract
Background: NTRK2 is a group of neurological disorders characterized by epilepsy and developmental delay. Neurodevelopmental disorders and obesity are linked to various inherited disorders and are often missed or diagnosed late. Our aim was to review Obesity,hyperphagia,and developmental delay (OBHD) which it overlaps with a wide range of neurodevelopmental disorders with obesity. Also, variable expressivity can mislead the diagnosis, especially if there is a parent with a similar phenotype but a milder presentation. Case presentation: A 8 -year-old girl presented with 6-year history of increase wight. On Neurodevelopmental examination, she found to have a speech delay and autistic features. Parents deny sphincter dysfunction and cognitive delay. Family history was negative for members with a similar presentation. Genetic testing identified a novel mutation in NTKR2 gene. Parents were examined and underwent segregation analysis which came back negative, so it is de novo. Conclusion: Obesity and neurodevelopmental delay are features that are seen in a wide range of inherited disorders, either chromosomal or single-gene disorders. Here we highlight the importance of thorough history, examination, and the application of genetic testing sooner than later to avoid delaying the diagnosis and report a possible novel variant in the NTRK2 gene. Functional studies would be our next step.
Keywords: NTRK2, Obesity, Developmental delay
Pubmed Style
Anwar Ramadan Alhamas, Amal Mohammed Alhashem, Ali Alasmari, Eissa Ali Faqeih. NTRK2-Related Obesity, Hyperphagia, and Developmental Delay: Case Report. JBC Genetics. 2022; 12 (December 2022): 48-52. doi:10.24911/JBCGenetics/183-1665949143
Web Style
Anwar Ramadan Alhamas, Amal Mohammed Alhashem, Ali Alasmari, Eissa Ali Faqeih. NTRK2-Related Obesity, Hyperphagia, and Developmental Delay: Case Report. https://www.jbcgenetics.com/articles/2108 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1665949143
AMA (American Medical Association) Style
Anwar Ramadan Alhamas, Amal Mohammed Alhashem, Ali Alasmari, Eissa Ali Faqeih. NTRK2-Related Obesity, Hyperphagia, and Developmental Delay: Case Report. JBC Genetics. 2022; 12 (December 2022): 48-52. doi:10.24911/JBCGenetics/183-1665949143
Vancouver/ICMJE Style
Anwar Ramadan Alhamas, Amal Mohammed Alhashem, Ali Alasmari, Eissa Ali Faqeih. NTRK2-Related Obesity, Hyperphagia, and Developmental Delay: Case Report. JBC Genetics. (2022), [cited April 27, 2025]; 12 (December 2022): 48-52. doi:10.24911/JBCGenetics/183-1665949143
Harvard Style
Anwar Ramadan Alhamas, Amal Mohammed Alhashem, Ali Alasmari, Eissa Ali Faqeih (2022) NTRK2-Related Obesity, Hyperphagia, and Developmental Delay: Case Report. JBC Genetics, 12 (December 2022): 48-52. doi:10.24911/JBCGenetics/183-1665949143
Chicago Style
Anwar Ramadan Alhamas, Amal Mohammed Alhashem, Ali Alasmari, Eissa Ali Faqeih. "NTRK2-Related Obesity, Hyperphagia, and Developmental Delay: Case Report." 12 (2022), 48-52. doi:10.24911/JBCGenetics/183-1665949143
MLA (The Modern Language Association) Style
Anwar Ramadan Alhamas, Amal Mohammed Alhashem, Ali Alasmari, Eissa Ali Faqeih. "NTRK2-Related Obesity, Hyperphagia, and Developmental Delay: Case Report." 12.December 2022 (2022), 48-52. Print. doi:10.24911/JBCGenetics/183-1665949143
APA (American Psychological Association) Style
Anwar Ramadan Alhamas, Amal Mohammed Alhashem, Ali Alasmari, Eissa Ali Faqeih (2022) NTRK2-Related Obesity, Hyperphagia, and Developmental Delay: Case Report. , 12 (December 2022), 48-52. doi:10.24911/JBCGenetics/183-1665949143