Unusual Phenotype and Disease Trajectory in Kearns–Sayre Syndrome

Abstract

Objective. To describe unusual course and unusual phenotypic features in an adult patient with Kearns–Sayre syndrome (KSS). Case Report. The patient is a 49-year-old male with KSS, diagnosed clinically upon the core features, namely, onset before the age 20 of years, pigmentary retinopathy, and ophthalmoparesis, and the complementary features, namely, elevated CSF protein, cardiac conduction defects, and cerebellar ataxia. The patient presented also with other previously described features, such as diabetes, short stature, white matter lesions, hypoacusis, migraine, hepatopathy, steatosis hepatis, hypocorticism (hyponatremia), and cataract. Unusual features the patient presented with were congenital anisocoria, severe caries, liver cysts, pituitary enlargement, desquamation of hands and feet, bone chondroma, aortic ectasia, dermoidal cyst, and sinusoidal polyposis. The course was untypical since most of the core phenotypic features developed not earlier than in adulthood. Conclusions. KSS is a multisystem disease, but the number of tissues affected is higher than so far anticipated. KSS should be considered even if core features develop not earlier than in adulthood and if unusual features accompany the presentation.

A Case Report of Kearns-Sayre Syndrome: Not an Absolute Contraindication for Radiotherapy

“…Kearns-Sayre syndrome (KSS, OMIM #530000) is a rare multisystem disorder arising from mitochondrial cytopathy [1], usually due to a single large deletion of mitochondrial DNA (mtDNA) [2,3]. The clinical manifestations include chronic progressive external ophthalmoplegia, pigmentary retinopathy, cardiac conduction defects, and cerebellar dysfunction, with the age of onset being <20 years of age [1][2][3].…”

Diagnosis of Kearns–Sayre syndrome requires genetic confirmation

“…In addition to pigmentary retinopathy, patients with KSS may develop other ocular manifestations such as cataract or congenital anisocoria. [ 7 ] There is also one report about KSS and normal-tension glaucoma. Were any of these features present in the two KSS patients?…”