Ondine's Curse Consequent to Recurrent Respiratory Failure in a Man with Leber Hereditary Optic Neuropathy

ABSTRACT

Leber's hereditary optic neuropathy (LHON) is a disease due to mitochondrial DNA mutations. We report a man with LHON, who presented with four episodes of respiratory failure. In the last episode, he had a loss of the automatic component of the respiratory drive but retained the voluntary component. Brain MRI showed lesions in the midbrain, pons, and medulla oblongata, involving the neuroanatomic areas of the medullary respiratory center. Our patient provides a further example of the broad manifestations of mitochondrial disease.