• Corpus ID: 18702627

Mitochondrial Disease Clinical Manifestations: an Overview General Characteristics of Pediatric and Adult- Onset Disease

  title={Mitochondrial Disease Clinical Manifestations: an Overview General Characteristics of Pediatric and Adult- Onset Disease},
  author={Andre Mattman and Sandra M. Sirrs and Michelle M. Mezei and Ramona Salvarinova-Zivkovic and Majid Alfadhel and Yolanda P Lillquist}
Mitochondrial diseases are a heterogeneous group of disorders that can affect multiple organs with varying severity. Symptoms may be acute or chronic with intermittent decompensation. In childhood-onset disease, there is often a history of global developmental delay, while in adulthood the past history may be unremarkable prior to initial presentation. The unique character of mito-chondrial genetics means family history patterns of inheritance may be both maternal and autosomal, making genetic… 


Mitochondrial diseases in childhood: a clinical approach to investigation and management
The aim of this review is to provide paediatric neurologists, paediatricians, and allied health professionals with a structured approach to the diagnosis and management of children with suspected or confirmed mitochondrial disease.
Diagnosis and treatment of childhood mitochondrial diseases
  • A. Gropman
  • Biology, Medicine
    Current neurology and neuroscience reports
  • 2001
Although some children with mitochondrial disease present with life-threatening lactic acidosis in the newborn period, the majority of children come to clinical attention for nonspecific problems, including failure to thrive, developmental delay, seizures, hypotonia, and loss of developmental milestones.
Cardiac involvement is frequent in patients with the m.8344A>G mutation of mitochondrial DNA
Myocardial involvement was associated with an increased risk of cardiac death due to heart failure, suggesting that cardiac investigations should be systematically considered in patients carrying the m.8344 A>G mutation.
Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction.
Mitochondrial disorders seem to be an important cause of chronic intestinal pseudo-obstruction, and patients with CIPO, especially severe cases with associated neurologic symptoms, should be tested for mitochondrial defects.
Mitochondrial disorders: A proposal for consensus diagnostic criteria in infants and children
BackgroundIn 1996 diagnostic criteria were published for adults with respiratory chain disorders. Modified criteria for children were also recently proposed. ObjectiveTo facilitate and standardize
Diagnostic criteria for respiratory chain disorders in adults and children
The authors modified the adult RC diagnostic criteria to allow for pediatric clinical and histologic features and for more sensitive coding of RC enzyme and functional studies, which appear to improve the sensitivity of the adult criteria.
Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation.
The m.3243A>G mutation should be considered as an etiological factor in patients with autonomic dysfunction and a medical or family history suggestive of mitochondrial disease, and early detection and proactive management may mitigate the burden of morbidity.
Infantile cardioencephalopathy due to a COX15 gene defect: Report and review
Molecular investigations showed compound heterozygosity for two known pathogenic mutations in the COX15 gene in a female infant with a neonatal rapidly progressive fatal course characterized by microcephaly, encephalopathy, persistent lactic acidosis, and hypertrophic cardiomyopathy.
Ophthalmological findings in children and young adults with genetically verified mitochondrial disease
It is recommended that an ophthalmological examination, including ERG, be performed on all children and adolescents who are suspected of having a mitochondrial disease.
Digestive smooth muscle mitochondrial myopathy in patients with mitochondrial-neuro-gastro-intestinal encephalomyopathy (MNGIE).
In 3 cases, including 2 of the 3 patients, mitochondrial abnormalities were evidenced at the ultrastructural level in digestive smooth muscle demonstrating that the pathogenesis of gastrointestinal involvement was directly related to mitochondrial alterations in Digestive smooth muscle cells.