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aaCytochrome c oxidase (COX) is a complex mitochondrial enzyme involved in oxidative phosphorylation. COX deficiency can result in a myopathy. We describe a patient with acute respiratory failure and pulmonary hypertension secondary to a partial COX enzyme deficiency. This is one of four reported cases with isolated late-onset COX deficiency involving muscle, sparing ocular or central nervous system function. This patient also illustrates the need to consider neuromuscular weakness in the differential diagnosis of dyspnoea, respiratory failure and pulmonary hypertension. Finally, the effectiveness of bilevel positive airway pressure (BiPAP) therapy in respiratory failure due to a myopathy is demonstrated. Case reportA 27 yr old woman was admitted to another hospital after 3 months of progressive dyspnoea on exertion. She was short of breath on walking up <1 flight of stairs. She also complained of coughing and some wheezing. Previous treatment included numerous courses of antibiotics and systemic corticosteroids without benefit. The patient had no prior illnesses; she was on no other medications, and had no known environmental exposures. She had never smoked cigarettes or abused alcohol or drugs. Her family history was noncontributory.Physical examination revealed the blood pressure to be 127/64 mmHg, heart rate 98 beats·min -1 , respiratory rate 23 breathes·min -1 . The patient was afebrile and in mild respiratory distress. There was evidence of pulmonary hypertension. A chest examination revealed limited thoracic movement and diminished breath sounds without wheezing or crackles. The patient had 3+ peripheral oedema. The neuromuscular exam was normal, including eye movements. Initial arterial blood gas analysis on room air: pH 7.36, O 2 tension in arterial blood (Pa,O 2 ) 4.1 kPa (31 mmHg), CO 2 tension in arterial blood (Pa,CO 2 ) 9.4 kPa (71 mmHg). The routine laboratory evaluation was unremarkable. The chest radiograph revealed cardiomegaly with central pulmonary vascular engorgement. Supplemental oxygen was administered, and the Pa,O 2 rose to 9.0 kPa (68 mmHg); however, the Pa,CO 2 progressively rose, ultimately requiring ventilatory support. Evaluation of the pulmonary hypertension included the following: cardiac ultrasound showed marked right atrial and ventricular enlargement, with moderate tricuspid regurgitation and normal left ventricular function. There was no evidence of intracardiac shunts. The ventilation-perfusion lung scan and lower extremity duplex ultrasound were normal. Right heart catheterization revealed a pulmonary artery pressure of 97/52 mmHg, cardiac output/index 7/3.5 L·min -1 , pulmonary capillary wedge pressure 18 mmHg, central venous pressure 27 mmHg, systemic vascular resistance 881 dyne·s -1 ·cm -5 , pulmonary vascular resistance 576 dyne·s -1 ·cm -5 . The patient was successfully extubated 2 days later and transferred to our hospital.Further evaluation at our hospital included: arterial blood gases, which showed pH 7.27, Pa,O 2 11.0 kPa (83 mmHg), Pa,CO 2 10.5 kPa (79 mmHg) on ...
aaCytochrome c oxidase (COX) is a complex mitochondrial enzyme involved in oxidative phosphorylation. COX deficiency can result in a myopathy. We describe a patient with acute respiratory failure and pulmonary hypertension secondary to a partial COX enzyme deficiency. This is one of four reported cases with isolated late-onset COX deficiency involving muscle, sparing ocular or central nervous system function. This patient also illustrates the need to consider neuromuscular weakness in the differential diagnosis of dyspnoea, respiratory failure and pulmonary hypertension. Finally, the effectiveness of bilevel positive airway pressure (BiPAP) therapy in respiratory failure due to a myopathy is demonstrated. Case reportA 27 yr old woman was admitted to another hospital after 3 months of progressive dyspnoea on exertion. She was short of breath on walking up <1 flight of stairs. She also complained of coughing and some wheezing. Previous treatment included numerous courses of antibiotics and systemic corticosteroids without benefit. The patient had no prior illnesses; she was on no other medications, and had no known environmental exposures. She had never smoked cigarettes or abused alcohol or drugs. Her family history was noncontributory.Physical examination revealed the blood pressure to be 127/64 mmHg, heart rate 98 beats·min -1 , respiratory rate 23 breathes·min -1 . The patient was afebrile and in mild respiratory distress. There was evidence of pulmonary hypertension. A chest examination revealed limited thoracic movement and diminished breath sounds without wheezing or crackles. The patient had 3+ peripheral oedema. The neuromuscular exam was normal, including eye movements. Initial arterial blood gas analysis on room air: pH 7.36, O 2 tension in arterial blood (Pa,O 2 ) 4.1 kPa (31 mmHg), CO 2 tension in arterial blood (Pa,CO 2 ) 9.4 kPa (71 mmHg). The routine laboratory evaluation was unremarkable. The chest radiograph revealed cardiomegaly with central pulmonary vascular engorgement. Supplemental oxygen was administered, and the Pa,O 2 rose to 9.0 kPa (68 mmHg); however, the Pa,CO 2 progressively rose, ultimately requiring ventilatory support. Evaluation of the pulmonary hypertension included the following: cardiac ultrasound showed marked right atrial and ventricular enlargement, with moderate tricuspid regurgitation and normal left ventricular function. There was no evidence of intracardiac shunts. The ventilation-perfusion lung scan and lower extremity duplex ultrasound were normal. Right heart catheterization revealed a pulmonary artery pressure of 97/52 mmHg, cardiac output/index 7/3.5 L·min -1 , pulmonary capillary wedge pressure 18 mmHg, central venous pressure 27 mmHg, systemic vascular resistance 881 dyne·s -1 ·cm -5 , pulmonary vascular resistance 576 dyne·s -1 ·cm -5 . The patient was successfully extubated 2 days later and transferred to our hospital.Further evaluation at our hospital included: arterial blood gases, which showed pH 7.27, Pa,O 2 11.0 kPa (83 mmHg), Pa,CO 2 10.5 kPa (79 mmHg) on ...
Objectives: Combined complex I+IV deficiency has rarely been reported to manifest with the involvement of the respiratory muscles.Case Report: A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy. Biochemical investigations revealed a combined complex I+IV defect. Respiratory insufficiency was attributed to mitochondrial myopathy affecting not only the extra-ocular and the axial muscles but also the shoulder girdle and respiratory muscles. In addition to myopathy, he had mitochondrial neuropathy, abnormal EEG, and elevated CSF-protein. Possibly, this is why a single cycle of immunoglobulins was somehow beneficial. For muscular respiratory insufficiency he required tracheostomy and was scheduled for long-term intermittent positive pressure ventilation.Conclusion: Mitochondrial myopathy due to a combined complex I+IV defect with predominant affection of the extra-ocular muscles may progress to involvement of the limb-girdle, axial and respiratory muscles resulting in muscular respiratory insufficiency. In patients with mitochondrial myopathy, neuropathy and elevated cerebrospinal fluid protein, immunoglobulins may be beneficial even for respiratory functions.
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