Cause of Death in Children With Mitochondrial Diseases

Soyong Eom, Ha Neul Lee, Sunho Lee, Hoon Chul Kang, Joon Soo Lee, Heung Dong Kim, Young Mock Lee

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33 Citations (Scopus)


Background We investigated the clinical characteristics that represent risk factors for death in pediatric patients with mitochondrial diseases. Methods The medical records of mitochondrial disease pediatric patients attended between 2006 and 2015 (n = 221) were reviewed for clinical characteristics, diagnosis, hospitalization, follow-up, survival, and cause of death. Results The global mortality rate in the cohort was 14% (average age at death, six years). By syndromic diagnosis, the mortality rates were as follows: Leigh syndrome, 17% (15 of 88); mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes, 50% (two of four); and nonspecific mitochondrial disease, 11% (14 of 129). Data regarding 31 patients (17 males) were included in the analysis of cause of death. The age at symptom onset, lead time to diagnosis, duration of illness, and duration of life were 1.8 ± 2.0, 1.7 ± 1.5, 4.3 ± 2.7, and 6.1 ± 2.9 years, respectively. The most common causes of death were sepsis, pneumonia, disseminated intravascular coagulation, and sudden unexpected death (55%, 42%, 29%, and 29%, respectively). Early death (age six years or younger) was associated with lesions in the thalamus, number of organs involved, and Leigh syndrome. Conclusions Careful monitoring of the medical condition and early intervention are key to improving survival in pediatric patients with mitochondrial disease.

Original languageEnglish
Pages (from-to)82-88
Number of pages7
JournalPediatric Neurology
Publication statusPublished - 2017 Jan 1

Bibliographical note

Funding Information:
This research was supported by funds from several sources: a Basic Science Research Program of the National Research Foundation of Korea funded by the Ministry of Science, ICT and Future Planning (grant numbers 2014-31-0662 and 2015-31-0580) and by a grant of the Korea Health Technology R&D Project through the Korea Health Industry Development Institute funded by the Ministry of Health & Welfare, Republic of Korea (grant number HI15C2578).

Publisher Copyright:
© 2016 Elsevier Inc.

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology


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