Related Experiment Videos
Benign reversible muscle cytochrome c oxidase deficiency: a second case
Neurology
|January 1, 1987
Summary
This case study highlights a benign infantile myopathy caused by reversible cytochrome c oxidase (COX) deficiency. Early symptoms improved, demonstrating the condition
Area of Science:
- Biochemistry
- Pediatric Neurology
- Mitochondrial Diseases
Background:
- Infantile myopathies can present with severe symptoms like generalized weakness and lactic acidosis.
- Cytochrome c oxidase (COX) deficiency is a known cause of mitochondrial myopathies.
Observation:
- A 6-week-old infant experienced generalized weakness, lactic acidosis, and required assisted ventilation.
- Muscle biopsies revealed mitochondrial, lipid, and glycogen accumulation with significantly reduced COX activity.
- Clinical improvement and resolution of lactic acidosis occurred by 6 months, with ventilation discontinued at 15 months.
Findings:
- Initial COX activity was 11% of control, increasing to 57% by 11 months, indicating reversible deficiency.
- Immunocytochemistry confirmed the presence of COX enzyme protein, despite low activity.
- Severe fibrosis noted in later biopsies may correlate with slower clinical recovery.
Implications:
- This case supports the existence of benign infantile myopathy linked to reversible COX deficiency.
- Understanding the reversibility of COX deficiency is crucial for diagnosing and managing pediatric mitochondrial disorders.
- Fibrosis progression may impact long-term prognosis in mitochondrial myopathies.