First Report of A Lebanese Patient With TK2 Related Myopathic Syndrome
Al-Fata Soulaima1, Masri Marwa1, Hage Pierre1, Hamod Dany1, Diab Nabil1, Ghanem Soha1, Megarbane Andre2, El-Khoury Riyad3, Sacy Robert4 and Mansour Hicham1*
1Pediatrics Department, Saint George University Medical Center, Saint George University of Beirut, Beirut, Lebanon.
2Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Lebanon.
3Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon. AP-HP, H. Pitié-Salpêtrière, Institut de Myologie, Unité de Morphologie Neuromusculaire, France.
4Beirut Quarantina Government Hospital, Lebanon.
*Corresponding Author: Dr. Mansour Hicham, Pediatrics Department, Saint George University Medical Center, Saint George University of Beirut, Beirut, Lebanon.
DOI: https://doi.org/10.58624/SVOAPD.2023.02.029
Received: February 13, 2023 Published: March 02, 2023
Abstract
Congenital Neuromuscular disorders are individually very rare but collectively very common, particularly in societies with very high rates of consanguinity. Their diagnosis yet remains challenging and many underdiagnosed. During the infectious episodes the patients affected with these disorders present with different levels of severity especially affecting the respiratory system. Here, we report a novel mutation in a Lebanese patient presenting with an early onset mucle weakness and motor regression. By Whole Exome Sequencing, a novel likely pathogenic variant in the thymidine kinase 2 (TK2) gene was found confirming the diagnosis of mitochondrial DNA depletion syndrome type 2 (Myopathic type). At age of 4 years and a half, the patient was affected by COVID-19. The clinical features of this patient, in addition to its treatment during his COVID-19 infection are discussed.
Keywords: TK2 gene; Exome; Myopathy; Mitochondrial Disease; COVID-19
Citation: Al-Fata S, Masri M, Hage P, Hamod D, Diab N, Ghanem S, Megarbane A, El-Khoury R, Sacy S, Mansour H. First Report of A Lebanese Patient With TK2 Related Myopathic Syndrome. SVOA Paediatrics 2023, 2:2, 31-35.