Kearns-Sayre syndrome

What this deck covers

Kearns-Sayre syndrome in twelve clinical teaching cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong.

Diagnoses and management options tested

Across the twelve cases you are asked to choose between options such as: Syncope, heart block and night blindness, Ptosis, cataracts and sensorineural hearing loss, Preserved visual acuity despite the retinopathy, Bilateral blindness by age 30, Rapid progression to retinal atrophy, Cataract-related vision loss, Autosomal dominant inheritance, Sporadic large-scale mitochondrial DNA deletions, X-linked recessive transmission, Trinucleotide repeat expansion, Anticipation with trinucleotide repeats, Genomic imprinting, Loss of heterozygosity, Probable diagnosis, needing muscle biopsy confirmation, Diagnosis requires genetic confirmation, Endomysial inflammation, Ragged-red fibres and COX-negative fibres, Nemaline rods, Dystrophic changes, Normal blood lactate excludes mitochondrial disease, Kearns-Sayre syndrome with incomplete expression, MELAS syndrome with CPEO overlap, Pearson syndrome, Implant a permanent pacemaker, Proceed with an electrophysiology study, High-dose corticosteroids with intravenous immunoglobulin.

Clinical pearls from this deck

• The essential triad is chronic progressive external ophthalmoplegia (with bilateral ptosis), pigmentary retinopathy, and onset before age 20. Diagnosis then requires at least one of: cardiac conduction defect, cerebellar ataxia, or CSF protein above 100 mg/dL.
• The chin-up head posture is a compensatory mechanism for severe ptosis and is highly characteristic. Ptosis is bilateral with reduced levator function, and diplopia is characteristically absent because the ophthalmoplegia progresses symmetrically and slowly.

The twelve worked cases in this deck, with the images and the full explanation of every option, are part of Pediatric Case Review membership. See what is included.

More from this system: all metabolic and genetic decks and question sets · pediatric reference values.