KEARN SYNDROME
\kˈi͡ən sˈɪndɹə͡ʊm], \kˈiən sˈɪndɹəʊm], \k_ˈiə_n s_ˈɪ_n_d_ɹ_əʊ_m]\
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A mitochondrial disorder featuring the triad of chronic progressive external ophthalmoplegia, cardiomyopathy (with conduction block), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)
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Word of the day
Snake's-head
- Guinea-hen flower; -- so called in England because its spotted petals resemble the scales of a snake's head.