Kearns Sayre Syndrome

Kearns-Sayre Syndrome (KSS), with onset in adolescence, is distinguished by progressive external ophthal-moplegia, pigmentary retinopathy, sensorineuronal hearing loss, cerebellar ataxia, heart block, mental regression, myopathy, and elevated CSF protein. Neuro-imaging shows white matter hyperintensities on T2-weighted MRI and calcifications in the basal ganglia

table 9.7

Mode of Inheritance of Mitochondrial Diseases

Maternal

Mendelian

MELAS

AD: PEO

MERRF

AR: MNGIE

LHON

AR: LS

LS

X-linked: LS

KSS*

AD, autosomal dominant; AR, autosomal "sporadic mtDNA mutation.

recessive;

on CT scan. Death occurs in the third or fourth decade. The disease is sporadic and is associated with duplications and deletions of mtDNA.

Characteristic pathologic changes are (a) widespread spongiform degenerations of the cerebral and cerebellar white matter, (b) prominent neuronal degenerations in the brain stem and cerebellum, (c) calcifications in the globus pallidus, thalamus, and substantia nigra, and (d) ragged-red fiber myopathy.

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