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Leigh disease due to SCO2 mutations revealed at extended autopsy
  1. Tamara Szymanska-Debinska1,
  2. Agnieszka Karkucinska-Wieckowska1,
  3. Dorota Piekutowska-Abramczuk2,
  4. Elżbieta Jurkiewicz3,
  5. Katarzyna Iwanicka-Pronicka2,4,
  6. Dariusz Rokicki5,
  7. Maciej Pronicki1
  1. 1Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland
  2. 2Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland
  3. 3Department of Nuclear Medicine, The Children's Memorial Health Institute, Warsaw, Poland
  4. 4Department of Audiology and Phoniatrics, The Children's Memorial Health Institute, Warsaw, Poland
  5. 5Department of Pediatrics, Nutrition and Metabolic Diseases The Children's Memorial Health Institute, Warsaw, Poland
  1. Correspondence to Dr Katarzyna Iwanicka-Pronicka, Department of Audiology and Phoniatrics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, Warszawa 04-730, Poland; katarzynapronicka{at}

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The purpose of this letter is to present the extended autopsy protocol that allowed for recognition of cytochrome oxidase (COX) deficiency post mortem and subsequent identification of SCO2 mutations in an infant who died without established cause.

Mitochondrial pathology, including SCO2 deficiency, is a frequent cause of severe disease in neonates and infants. Due to the fast progression and early deaths, a completion of the final diagnosis in living patient is often impossible. The standard autopsy protocol usually does not substantially contribute to the appropriate diagnosis.

The SCO2 protein belongs to copper chaperones, which contribute to activation of COX. Classical phenotype of SCO2 deficiency includes neonatal mitochondrial encephalocardiomyopathy and is characteristic for compound heterozygotes of SCO2 gene mutations.1 The later onset of mitochondrial encephalomyopathy with expiratory stridor and respiratory failure is observed in g.1541G>A homozygotes.2 ,3

The patient presented at birth with a respiratory insufficiency and progressive neurological involvement. He died at the age of 3 months. Neither muscle biopsy nor a fibroblast culture was performed during the life. The autopsy was made at the regional hospital 37.5 h after death according to our recommendation.

The extended autopsy protocol included: (1) biochemical examination of frozen tissue sections taken at standard autopsy and (2) neuropathological examination of the brain.4 The study was approved by the CMHI bioethical committee. The patients’ parents provided written informed consent for the study.

Autopsy tissues of the patient were kept in deep-frozen condition. …

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  • Handling editor Cheok Soon Lee

  • Contributors TSD: western blot designed and analysis. AK-W: western blot designed and analysis. DP-A: molecular study. EJ: MRI analysis and photo. KI-P: phoniatric diagnosis of the patients; preparing the manuscript for the submission. DR: paediatric care and diagnosis of the patients. MP: designed the study; histopathological assessment of the studied specimens.

  • Funding The work was supported by the grants from the Ministry of Science and Higher Education no 0751/B/P01/2009/37, no 1154/B/PO1/2011/40 and the EU Structural Funds, project POIG.02.01.00-14-059/09.

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval The Ethical Committee of the Children's Memorial Health Institute.

  • Provenance and peer review Not commissioned; externally peer reviewed.