Lumping or splitting? "ophthalmoplegia-plus" or kearns-sayre syndrome?

Five new cases and 30 others from the literature were characterized by the clinical triad of progressive external ophthalmoplegia, atypical pigmentary degeneration of the retina, and heart block. The syndrome is sporadic, not hereditary, and begins by the age of 20 years. In many cases there is other evidence of widespread neurological disorder, implicating specific areas: cerebellum; auditory and vestibular systems; skeletal muscle; and, less often, intellectual function or corticospinal tracts. Short stature and delayed sexual maturation are also frequent. The CSF protein content is almost always greater than 100 mg/dl. Spongioform encephalopathy was found in 4 postmortem examinations. In all cases so examined, muscle mitochondria were abnormal. The constancy of these manifestations suggests that the disorder is a true entity, not an artificial subclass of the large group of disorders associated with ophthalmoplegia. Several characteristics suggest that the disorder of neuronal and muscle metabolism is induced by persistent viral infection. The sequence of manifestations may vary, and cardiopathy in particular may be delayed for many years. Patients with ophthalmoplegia, pigmentary degeneration of the retina, and abnormal CSF protein content are likely to develp the full syndrome. This was illustrated by observation of 2 previously reported cases and 1 new one. Because the cardiopathy may be fatal, a pacemaker should be used if indications are appropriate.