Journal of Biomedical Research and Reviews

Abstract

Introduction: #Mitochondrial disorders have a clinical and #geneticheterogeneity which often complicates the diagnostic process especially in critically ill patients. Exome sequencing can help to generate a definite diagnosis in a rather short time.

Case Presentation: A boy presented with inspiratory stridor, respiratory insufficiency, progressive #muscularhypotonia, poor head control and sucking, and #hypersomnia at three months of age. He got ventilator dependent and developed cardiomyopathy within weeks. The progressive multisystem disease leads to the suspicion of a mitochondrial disorder. As neither the clinical nor the metabolic changes or the diagnostic procedures performed seemed indicative of a specific mitochondrial disorder, we performed exome sequencing. This revealed a known #homozygousmutation (c.418G>A, p.Glu140Lys) in SCO2.

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Diagnostic Work Up in A Patient with A Progressive Cardio-/Encephalomyopathy, Peripheral Neuropathy and Respiratory Stridor by Manuela Zlamy in BJSTR