First Report of A Lebanese Patient With TK2 Related Myopathic Syndrome

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.