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KMID : 0359719920100020224
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Journal of the Korean Neurological Association
1992 Volume.10 No. 2 p.224 ~ p.231
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Clinical Phenotypic Patterns of Ophthalmoplegia Plus with Ragged Red Fiber
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이광우
김상윤/김주용/이남수/기승현/이상복/명호진/지제근
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Abstract
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Chronic progressive ophthalmoplegia (CPEO) is a vague clinical entity, which needs further understanding and there is still intense controversy about the classification on " the Syndrome of Progressive External Ophthalmoplegia". In our country
two
cases
of similar disease were reported with the title of oculocraniosomatic disease and CPEO with ragged red fiber
Authors experienced a 39 year-old woman with typical Keams-Syre syndrome (KSS0 and a 44 year-old man with ophthalmoplegia plus syndrome. The case with Kearns-Sayre syndrome had an invariable triad of 1) chronic progressive external
ophthalmoplegia
and
onset before 20 years of age, 2) retinal pigmentary degeneration of salt & pepper pattern and 3) mitochondrial abnormalities with additional findings of increased cerbrospinal fluid protein and cerebellar ataxia. The other case with
ophthalmoplegia
plus
with ragged red fiber syndrome had similar symptomatology to keams-Sayre syndrome except for typical retinal pigmentary degeneration. Both cases showed electromyographic myopathic findings and typical histopathologic features as ragged red fber
and
paracrystalline mitochondrial aggregations.
Therefore authors would say that these clinical different phenotypes of mitochondrial abnormality should be undrstood ? detail by the biochemical investigations.
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KEYWORD
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