Abstract Progressive external ophthalmoplegia, retinitis pigmentosa, and heart block (Kearns-Sayre syndrome) is a rare disorder that most commonly begins in childhood, with ptosis as the initial sign.1 The syndrome has not been presented before in the pediatric literature, and all previous cases of the disorder have been reported in the adult neurological or ophthalmological literature where debate has centered mainly about the pathogenesis of the disorder. It has been emphasized recently that, with the advent of pacemaker treatment of heart block, early recognition of the syndrome has taken on potentially therapeutic significance.2 This case report is of a young woman who has been observed in the Pediatric Neurology Clinic at the Yale-New Haven Hospital since the age of 11 years with the characteristic signs of the Kearns-Sayre syndrome, and who also has juvenile diabetes mellitus. The latter has not previously been reported with this syndrome and its significance is References 1. Kearns TP, Sayre GP: Retinitis pigmentosa, external ophthalmoplegia, and complete heart block . Arch Ophthal 60:280, 1958.Crossref 2. Ross A, Lipschutz D, Austin J, et al: External ophthalmoplegia and complete heart block . N Engl J Med 280:313-314, 1969.Crossref 3. Drachman DA: Ophthalmoplegia plus . Arch Neurol 18:654-674, 1968.Crossref 4. Olson W, Engel WK, Walsh GO, et al: Oculocraniosomatic neuromuscular disease with ragged-red fibers . Arch Neurol 26:193-211, 1972.Crossref 5. Karpati G, Carpenter S, Larbrisseau A, et al: The Kearns-Sayre syndrome . J Neurol Sci 19:133-151, 1973.Crossref 6. Carroll JE, Zwillich C, Weil JV, et al: Abnormal ventilatory drive in the ragged-red fiber syndrome . Neurology 25:348, 1975.
American Journal of Diseases of Children – American Medical Association
Published: Jun 1, 1977