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- W2019945847 abstract "I read with interest the case report entitled “The Pituitary Gland in the Laurence-Moon Syndrome,” which was written by Whitaker and associates and published in the March 1987 issue of the Proceedings (pages 216 to 222). The patient described was a 17-year-old boy who had had the onset of ptosis in childhood, progressive external ophthalmoplegia, progressive sensorineural hearing loss, gait disturbance (was this ataxia?), learning disabilities, and possibly a cardiac conduction defect (given his history of syncopal episodes and sudden death from cardiac arrest). Pigmentary disturbance of the retina was noted, but no data on vision, visual fields, or electroretinography were mentioned. This patient's clinical course is characteristic of the “Kearns-Sayre syndrome”; in fact, the authors indicated that certain aspects of this case had previously been reported by Kearns and Sayre.1Kearns TP Sayre GP Retinitis pigmentosa, external ophthalmoplegia, and complete heart block: unusual syndrome with histologic study in one of two cases.Arch Ophthalmol. 1958; 60: 280-289Crossref Scopus (559) Google Scholar The Kearns-Sayre syndrome is now recognized as one of the mitochondrial myopathies,2DiMauro S Bonilla E Zeviani M Nakagawa M DeVivo DC Mitochondrial myopathies.Ann Neurol. 1985; 17: 521-538Crossref PubMed Scopus (678) Google Scholar in which characteristic changes of mitochondria are observed by electron microscopy. In contrast, the Laurence-Moon-Biedl syndrome is an autosomal recessive disorder characterized by (1) postaxial polydactyly, (2) mental retardation, (3) obesity, (4) a retinitis pigmentosa-like retinal dystrophy, (5) hypogonadism, and (6) interstitial nephritis. Ptosis, progressive external ophthalmoplegia, progressive sensorineural hearing loss, and cardiac conduction defects are not a part of this syndrome. None of the data presented on this patient suggests the diagnosis of the Laurence-Moon-Biedl syndrome. Perhaps if muscle tissue is available, it would be possible to do light microscopy or electron microscopy to evaluate for a mitochondrial myopathy. Laurence-Moon Syndrome?: Dr. Whitaker repliesMayo Clinic ProceedingsVol. 63Issue 2PreviewDr. Pagon has raised an important issue about the nosology of the Laurence-Moon syndrome. Much confusion has arisen as a result of various phenotypic additions to the original Laurence-Moon description; in our article, my coauthors and I carefully attempted to avoid some of this confusion. Dr. Pagon has correctly described the Laurence-Moon-Biedl syndrome; we do not believe that our patient had this disorder. As indicated in the first paragraph of our report, we were describing a patient with the Laurence-Moon syndrome only; obesity and digital anomalies are not part of the original Laurence-Moon description. Full-Text PDF" @default.
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- W2019945847 date "1988-02-01" @default.
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- W2019945847 title "Laurence-Moon Syndrome?" @default.
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