Kearns-Sayre syndrome is characterized by onset before 20 years, chronic progressive external opthalmoplegia, pigmentary
retinal degeneration, and
ataxia (and/or hearth block, and/or high
protein content in the cerebrospinal fluid) in the presence of
mtDNA rearrangements. Multiple endocrine dysfunction associated with this syndrome was rarely reported. In this paper, the Authors report on a female patient with
Kearns-Sayre syndrome with large heteroplasmic
mtDNA deletion, absence of
cytochrome c oxidase in many muscle fibers, partial GH deficiency,
hypothyroidism and subsequently
insulin dependent diabetes mellitus (
IDDM). Anti-
thyroid peroxidase and antithyreoglobulin
antibodies were present in high titer in serum while anti-islet cell
antibodies were absent. The patient developed
thyroiditis with Hashimoto
encephalopathy. The presence of GH deficiency,
autoimmune thyroiditis with
hypothyroidism and
IDDM distinguishes this case from others and confirms the association of
Kearns-Sayre syndrome with multiple endocrine dysfunction. Hashimoto
encephalopathy and anti-thyroideal
antibodies suggest that in this patient, predisposed by a genetic
factor (a mitochondrial deletion) anti-thyroideal
antibodies may have contributed to the
hypothyroidism and, by interfering with cerebral mitochondrial function, may have caused the
encephalopathy. GH deficiency and
IDDM can be attributed to
oxidative phosphorylation deficiency but the autoimmunity may also have played a role in the production of glandular insufficiencies. It seems important to search for endocrine autoimmunity in every case of KSS.