Kearns-Sayre Syndrome: The Importance of Early Recognition

Kearns-Sayre Syndrome. Two Clinico-Pathological Cases

“…CT-scan showed calcifications in Case 2; they were associated with a hypoparathyroidism (5, 24) which can be lacking (4, 25). In both cases, large areas of low densities C. Bordarier et al were seen in the cerebral hemispheres as already shown by Bertorini et al (3) and by Seigel et al (30). They were found to be related to spongiosis at pathological examination.…”

Kearns‐Sayre Syndrome with hypoparathyroidism

“…The degree of visual loss was greater than has usually been reported, although visual acuity was reduced to 201400 in Patient 3 of Berenberg et al [3]; vision was restricted to light perception only in another patient [24] and was virtually absent in the left eye and markedly reduced in the right eye in 1 of the patients reported by Castaigne et al [7]. The complete absence of pupillary light reflexes, as manifested late in the course of our patient's disorder, has not been reported in previous cases, although an impaired response was found in the patient of Schneck et al 1231.…”

Diabetes With Mitochondrial Gene tRNALYS Mutation

“…This study shows significant reduction in insulin secretion in the mutated subjects compared with the nonmutated members and the normal control subjects. It has been speculated that a mitochondrial mutation-related defect of oxidative phosphorylation in the endocrine cells might result in reduction of hormone secretion (9)(10)(11)(12)(13)(14). Several studies described reduced insulin secretion in diabetes with chronic external ophthalmoplegia (CPEO) and KearnsSayre syndrome (KSS) (9)(10)(11)(12)(13)(14).…”

“…It has been speculated that a mitochondrial mutation-related defect of oxidative phosphorylation in the endocrine cells might result in reduction of hormone secretion (9)(10)(11)(12)(13)(14). Several studies described reduced insulin secretion in diabetes with chronic external ophthalmoplegia (CPEO) and KearnsSayre syndrome (KSS) (9)(10)(11)(12)(13)(14). We have reported that insulin secretory capacity of pancreatic /3-cells in the tRNA LHUCUUR) (3243) mutation was severely impaired, as evaluated by the insulinogenic index in OGTT, 24-h urinary excretion of CPR, and plasma CPR 6 min after intravenous administration of glucagon (15).…”