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[Respiratory insufficiency as the first sign of mitochondrial disorders]
M Ortí-Pareja1, F J Jiménez-Jiménez, B Barcenilla
1Sección de Neurología, Hospital Universitario Príncipe de Asturias, Madrid, España. MIORTI@teleline.es
Introduction:
In spite of the great variability in clinical signs in the mitochondrial disorders, reports of respiratory disorders in these conditions are purely anecdotal, and almost all occurred in patients with clinical data of the illness. We present a case in which respiratory insufficiency was the first sign of a mitochondrial disorder.
Case Report:
A 74 year old patient, with no significant clinical history, had two episodes of severe acute respiratory insufficiency without cardiopulmonary causes to justify it. The patient was investigated for neuromuscular disorders and had a muscle biopsy compatible with mitochondrial myopathy.
Conclusion:
The occurrence of respiratory failure in patients with mitochondrial disorders is exceptional, is not related to the degree of deterioration of the respiratory function tests and is potentially reversible.