MITOCHONDRIAL-DNA DELETION WITH KEARNS-SAYRE-SYNDROME IN A CHILD WITHADDISON-DISEASE

Kearns Sayre syndrome (KSS) is a multisystem disorder with a confoundi ng variety of clinical manifestations, including ocular myopathy, pigm entary retinopathy, heart block and ataxia. Endocrinopathies are commo n in KSS, including growth hormone deficiency, hypogonadism, diabetes mellitus and hypoparathyroidism. A variety of deletions of mitochondri al DNA (mtDNA) are found in most cases. We report on a 5-year-old boy with Addison disease in whom further investigation revealed a 4.9 kilo base mtDNA deletion and KSS. Later he developed severe lactic acidosis and expired. Conclusion The degree of mutant mtDNA heteroplasmy in va rious tissues on autopsy did not correlate well with the clinical mani festations, although this may be due at least in part to replacement w ith other tissue types. Our report is the first of non-autoimmune Addi son disease in KSS and patients with KSS should be evaluated for adren al insufficiency. Early recognition of adrenal insufficiency is crucia l to prevent mortality from this cause.