Case Report
Volume: 6 | Issue: 2 | Published: Mar 01, 2024 | Pages: 129 - 132 | DOI: 10.24911/JBCGenetics/183-1698921213
Undiscovered Phenotype of KARS1 Related Mitochondrial Leukoencephalopathy
Authors: Najla Binsabbar , Sadia Tabassum
Article Info
Authors
Najla Binsabbar
Division of Pediatric Neurology, Department of Pediatrics, King Abdullah Specialist Children's Hospital, National Guard Health Affairs, Riyadh, Saudi Arabia
Sadia Tabassum
National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia.
Publication History
Received: November 02, 2023
Revised: December 25, 2023
Accepted: January 23, 2024
Published: March 01, 2024
Abstract
Background: Infantile onset progressive leukoencephalopathy with or without deafness is an autosomal recessive neurodegenerative disorder with variable clinical presentation, manifesting in infancy or early childhood. This disorders is one of KARS1 gene mutation spectrum that results mostly from compound heterozygous mutations rather than homozygous mutations, resulting in a dysfunctional mitochondrial enzyme. Case presentation: We report our 4-year-old Saudi boy of non-consanguineous parents, with a compound heterozygous mutation in KARS1 gene presenting clinically with speech delay, bilateral sensonural hearing loss, unilateral progressive hemiparesis, iron deficiency anemia and lytic bone lesions. Conclusion: KARS1 mutation has a heterogenous phenotypic presentation, and variable clinical severity. We report a new clinical feature of lytic bone lesions which could potentially expand the phenotype of this genetic disorder spectrum. Early recognition of the clinical presentation is warranted to facilitate diagnosis, prognosis and appropriate family counseling.
Keywords: KARS1, leukoencephalopathy, developmental delay, hemiplegia, deafness, lytic bone lesions
Pubmed Style
Najla Binsabbar, Sadia Tabassum. Undiscovered Phenotype of KARS1 Related Mitochondrial Leukoencephalopathy. JBC Genetics. 2024; 01 (March 2024): 129-132. doi:10.24911/JBCGenetics/183-1698921213
Web Style
Najla Binsabbar, Sadia Tabassum. Undiscovered Phenotype of KARS1 Related Mitochondrial Leukoencephalopathy. https://www.jbcgenetics.com/index.php/articles/2093 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1698921213
AMA (American Medical Association) Style
Najla Binsabbar, Sadia Tabassum. Undiscovered Phenotype of KARS1 Related Mitochondrial Leukoencephalopathy. JBC Genetics. 2024; 01 (March 2024): 129-132. doi:10.24911/JBCGenetics/183-1698921213
Vancouver/ICMJE Style
Najla Binsabbar, Sadia Tabassum. Undiscovered Phenotype of KARS1 Related Mitochondrial Leukoencephalopathy. JBC Genetics. (2024), [cited April 27, 2025]; 01 (March 2024): 129-132. doi:10.24911/JBCGenetics/183-1698921213
Harvard Style
Najla Binsabbar, Sadia Tabassum (2024) Undiscovered Phenotype of KARS1 Related Mitochondrial Leukoencephalopathy. JBC Genetics, 01 (March 2024): 129-132. doi:10.24911/JBCGenetics/183-1698921213
Chicago Style
Najla Binsabbar, Sadia Tabassum. "Undiscovered Phenotype of KARS1 Related Mitochondrial Leukoencephalopathy." 01 (2024), 129-132. doi:10.24911/JBCGenetics/183-1698921213
MLA (The Modern Language Association) Style
Najla Binsabbar, Sadia Tabassum. "Undiscovered Phenotype of KARS1 Related Mitochondrial Leukoencephalopathy." 01.March 2024 (2024), 129-132. Print. doi:10.24911/JBCGenetics/183-1698921213
APA (American Psychological Association) Style
Najla Binsabbar, Sadia Tabassum (2024) Undiscovered Phenotype of KARS1 Related Mitochondrial Leukoencephalopathy. , 01 (March 2024), 129-132. doi:10.24911/JBCGenetics/183-1698921213