Literature DB >> 6259752

[Kearns and Sayre syndrome with hypoparathyroidism and diabetes (author's transl)].

O Robain, J M Richardet, J C Le Balle, M L Arsenio-Nunes, H E Brissaud.   

Abstract

The authors give a very complete description of the Kearns and Sayre syndrome : external ophthalmoplegia, pigmentary retinitis, cardiac conduction disorders, cerebellar syndrome, hypacusis, reduced height, raised CSF protein levels, mitochondrial anomalies in muscle, skin, and conjunctivae, and low density zones on scanning. They emphasize the not-infrequent association of endocrine anomalies : hypoparathyroidism, which may be the first manifestation of the disease, and diabetes. The etiology of this syndrome, which occurs sporadically and starts in infancy, is still unknown.

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Year:  1981        PMID: 6259752

Source DB:  PubMed          Journal:  Sem Hop


  2 in total

1.  Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome.

Authors:  I Nelson; F Degoul; B Obermaier-Kusser; N Romero; C Borrone; C Marsac; J L Vayssiere; K Gerbitz; M Fardeau; G Ponsot; P Lestienne
Journal:  Nucleic Acids Res       Date:  1989-10-25       Impact factor: 16.971

2.  Hyperglycemic acidotic coma and death in Kearns-Sayre syndrome.

Authors:  J T Flynn; B N Bachynski; M M Rodrigues; R G Curless; B Joshi
Journal:  Trans Am Ophthalmol Soc       Date:  1985
  2 in total

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