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KEARNS-SAYRE SYNDROME (KSS)

KEARNS-SAYRE SYNDROME (KSS)
OPHTHALMOPLEGIA, PIGMENTARY DEGENARATION OF RETINA AND CARDIOMYOPATHY; KEARNS-SAYRE DISEASE
530000
OMIM = Online Mendelian Inheritance of Men
480
mtDNA
H49.8
rare
mitochondrial inheritance
mitochondrial DNA (mtDNA) deletions
KSS is defined by the following triad: onset before the age of 20, CPEO, and pigmentary retinopathy [Shemesh A 2019]
Children who survive Pearson snydrome may progress to develop Kearns-Sayre syndrome later in life [Wild KT 2019].
Laboratory findings    5-Methyltetrahydrofolate (5-MTHF) dec (urine)
    D-Glucose dec (serum)
    Folate dec (cerebrospinal fluid)
    L-Lactic acid inc (blood)
    Lactate/Pyruvate ratio inc (blood)
    pH dec (blood)
    Protein, total inc (cerebrospinal fluid)
Symptoms    ataxia
    cardiac arrhythmia, dysrhythmia
    cardiomyopathy
    cardiomyopathy, dilated
    cardiomyopathy, hypertrophic
    coma
    CT, brain, abnormalities [-]
    dementia
    diabetes mellitus
    EMG abnormalities [-]
    growth retardation, poor growth
    hearing defect, deafness
    heart involvement
    hypoglycemia
    hypogonadism
    hypoparathyreoidism
    lactic acidosis
    mental retardation
    metabolic acidosis
    muscle weakness
    myopathy
    myopathy, ragged red fibers
    onset, infancy
    ophthalmoparesis
    ophthalmoplegia
    optic atrophy
    ptosis (drooping eyelid)
    retinal or macular degeneration
    retinitis pigmentosa
    retinopathy
    short stature
    tremor or twitching
    vomiting