Cause of Death in Children With Mitochondrial Diseases
Soyong Eom1, Ha Neul Lee2, Sunho Lee2
1Epilepsy Research Institute, Yonsei University College of Medicine, Seoul, Korea.
Insights
Identifying risk factors for death in pediatric mitochondrial disease is crucial for improving survival. Early death is linked to specific brain lesions, organ involvement, and Leigh syndrome, emphasizing the need for prompt intervention.
Area of Science:
- Pediatric Neurology
- Mitochondrial Medicine
- Clinical Genetics
Background:
- Mitochondrial diseases are a group of heterogeneous genetic disorders affecting cellular energy production.
- These conditions can lead to severe multi-systemic complications in children.
- Understanding mortality risk factors is essential for clinical management.
Purpose of the Study:
- To investigate clinical characteristics associated with mortality in pediatric patients diagnosed with mitochondrial diseases.
- To identify specific risk factors that predict death in this vulnerable population.
Main Methods:
- A retrospective review of medical records for 221 pediatric patients with mitochondrial disease from 2006 to 2015.
- Analysis included clinical characteristics, diagnosis, hospitalization, follow-up, survival data, and causes of death.
- Detailed examination of 31 deceased patients for age at onset, diagnosis lead time, illness duration, and life duration.
Main Results:
- The overall mortality rate was 14%, with an average age at death of six years.
- Leigh syndrome had a 17% mortality rate, while mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) showed a 50% rate.
- Common causes of death included sepsis, pneumonia, and disseminated intravascular coagulation; early death was associated with thalamic lesions, multi-organ involvement, and Leigh syndrome.
Conclusions:
- Early detection of risk factors and timely medical intervention are critical for enhancing survival rates in children with mitochondrial diseases.
- Specific clinical indicators, such as thalamic lesions and Leigh syndrome, are associated with earlier mortality.
- Continuous monitoring and prompt management strategies are paramount for improving outcomes.
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.
Related Concept Videos
01:46Electron Transport Chain: Complex I and II
ROS generation is regulated and maintained at moderate levels necessary...
01:37Mitochondria
02:59Animal Mitochondrial Genetics
01:45Mitochondrial Membranes
01:48ATP Synthase: Mechanism
01:20Inborn Errors of Metabolism