Case ReportOpen Access

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

Volume 5 - Issue 2

**Manuela Zlamy*¹, Sabine Scholl-Bürgi1, Benjamin Hetzer¹, Herta Zellner¹, Thomas Karall¹, Mathias Bauman¹, Johannes Mayr³, Reka Kovacs- Nagy², Saskia Wortmann^2,3 and Daniela Karall¹**

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- ¹Department of Pediatrics, Medical University of Innsbruck, Austria
- ²Institute of Human Genetics, Technical University Munich, Munich, Germany
- ³Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU)
*Corresponding author: Manuela Zlamy, Clinic for Pediatrics I, Department of Pediatrics, Medical University of Innsbruck, Anichstraße 35; 6020 Innsbruck, Austria

Received: May 30, 2018; Published: June 12, 2018

DOI: 10.26717/BJSTR.2018.05.001209

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Abstract

Introduction: Mitochondrial disorders have a clinical and genetic heterogeneity 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 muscular hypotonia, 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 homozygous mutation (c.418G>A, p.Glu140Lys) in SCO2.

Discussion:Retrospectively, the combination of progressive encephalomyopathy and inspiratory stridor could have been the diagnostic clue for SCO2 deficiency. However, given the enormous clinical and genetic heterogeneity it is nearly impossible to diagnose a mitochondrial disorder with single gene analysis in the restricted time frame clinicians’ face when caring for life- threatening ill infants. This case illustrates both the importance of concise clinical characterization and the power of exome sequencing as first line diagnostic procedure..