Search
Kearns-Sayre syndrome (KSS)
Epidemiology:
1) rare
2) onset usually before the age of 20
Genetics:
- maternal inheritance (mitochondrial genomic aberration)
Clinical manifestations:
1) progressive external ophthalmoplegia
2) retinitis pigmentosa
3) ptosis
4) variable feature
a) mild skeletal muscle weakness
b) short stature
c) hearing loss
d) ataxia
e) cognitive impairment
f) diabetes
g) seizures are infrequent
h) several endocrine disorders can be associated with KSS
Laboratory:
1) hyperglycemia may be observed
2) elevated cerebrospinal fluid protein
3) biochemical analysis of enzymes of oxidative phosphorylation
4) mitochondrial genome analysis Electrocardiogram
- heart block may be observed
Management:
1) specific treatment not available
2) limited success in some clinical trials with
a) Coenzyme Q10
b) riboflavin
c) vitamin C
d) vitamin K
3) prognosis: slowly progressive disorder
General
mitochondrial encephalomyopathy
neuromuscular disease; myoneural disease
syndrome
Database Correlations
OMIM 530000
References
- Medical Knowledge Self Assessment Program (MKSAP) 11, American
College of Physicians, Philadelphia 1998
- NINDS Kearns-Sayre Syndrome Information Page
https://www.ninds.nih.gov/Disorders/All-Disorders/Kearns-Sayre-Syndrome-Information-Page