Liste maladies rares par ordre alphabetique by association. Macular degeneration a disease that destroys your sharp, central vision. The author reports his experience on refsums disease and that gained after personally examining in detail 64 patients with charcotmarietooth disease over the past ten years. Easily share your publications and get them in front of issuus. We use cookies to offer you a better experience, personalize content, tailor advertising, provide social media features, and better understand the use of our services. Similarities with or differences from retinitis pigmentosa are discussed. All structured data from the file and property namespaces is available under the creative commons cc0 license. The cardinal eye symptoms of refsums disease are night blindness, retinal pigmentary degeneration and constriction of the visual fields. The gravity and the aspect of the retinal disorders which we have observed by ophthalmoscopy and electroretinography were quite different from one case to another, including two siblings. Bonduelle m, bouygues p, lormeau g, deloux g, laudat p, wolf lm. Refsum disease is a rare disorder of lipid metabolism that is inherited as a recessive trait. Refsums syndrome affecting a brother and two sisters.
Files are available under licenses specified on their description page. Clinicopathological study of refsums disease with particular reference to fatal complications. Federation des etablissements pour personnes maladie neuro. An unusual complication in one case was the development of renal failure. It is one of several disorders named after norwegian neurologist sigvald bernhard refsum 19071991.
Vision loss occurs as the lightsensing cells of the. Clinicopathological study of refsums disease with particular. This autosomally recessive condition leads to an accumulation of phytanic acid in various. Hepatomegaly, facial dysmorphia, growth andor mental retardation and osteopenia were observed in addition to retinitis pigmentosa and neurosensory deafness. We describe the ophthalmic manifestations of 3 cases of infantile refsums disease. Get a printable copy pdf file of the complete article 427k, or click on a page image below to browse page by page. Cest relativement rare et aucun traitement nest a faire hormis une surveillance. The clinical and pathological findings in two brothers with biochemically diagnosed refsum s disease are given. The gravity and the aspect of the retinal disorders which we have observed by ophthalmoscopy and electroretinography were quite different from one. Three cases of phytanic acid storage disease with symptoms during the first months of life are reported. This page was last edited on 9 february 2019, at 15. Symptoms may include a degenerative nerve disease peripheral neuropathy, failure of muscle coordination ataxia, retinitis pigmentosa a progressive vision disorder, and bone and skin changes.
Axonal neuropathy and late detection of refsums disease. Wo2004006911a2 compositions destinees au traitement des. The presence of phytanic acid in serum 160320 mol1 50100 gml was accompanied by hypocholesterolaemia. The cerebellar incoordination in charcotmarietooth disease with or without distal wasting and in refsum s disease is analysed. Amsterdam, northholland publishing co, 1975, vol 21, part 1, pp 181229. Links to pubmed are also available for selected references. Infantile phytanic acid storage disease, a possible variant. Read axonal neuropathy and late detection of refsum s disease, muscle and nerve on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. Two sisters and two unrelated patients with an ichthyosiform dermatosis resembling nonbullous ichthyosiform erythroderma were found to have lipid accumulations in the granulocytes of the peripheral blood, in the granulocyte precursors in the bone marrow, and in the liver. Elle associe une retinite pigmentaire, une atteinte. Refsums disease rd, also called heredopathia atactica polyneuritiformis, is a rare disorder with an autosomal recessive mode of inheritance, characterized by accumulation of phytanic acid. They can affect your vision, and some can be serious enough to cause blindness. Is the cerebellar incoordination of refsums disease due.
We describe the ophthalmic manifestations of 3 cases of infantile refsum s disease. Issuu is a digital publishing platform that makes it simple to publish magazines, catalogs, newspapers, books, and more online. Is the cerebellar incoordination of refsums disease due to. Is the cerebellar incoordination of refsums disease due to structural lesions in the cerebellum. Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell anosmia, and a variety of other signs and symptoms the vision loss associated with refsum disease is caused by an eye disorder called retinitis pigmentosa. Full text full text is available as a scanned copy of the original print version. Full text is available as a scanned copy of the original print version. The cerebellar incoordination in charcotmarietooth disease with or without distal wasting and in refsums disease is analysed. Ichthyosiform dermatosis with systemic lipidosis jama. Audiological findings in infantile refsum disease request pdf. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. Cacosmie au cours dun traitement par esomeprazole emconsulte.
Click on disease or condition by first letter for more information. Infantile phytanic acid storage disease, a possible. Alphabetical guide of diseases and conditions from mayo clinic experts. The pathology, in general, was that already described in this condition. Phytanic acid storage disease refsums disease, in vinken pj, bruyn gw eds. Refsum disease typically is adolescent onset and is diagnosed by above average levels of phytanic acid.
The clinical and pathological findings in two brothers with biochemically diagnosed refsums disease are given. Phytanic acid storage disease refsum s disease, in vinken pj, bruyn gw eds. This disorder affects the retina, the lightsensitive layer at the back of the eye. Retinal detachment a medical emergency, when the retina is pulled away from the back of the eye. Rocchiccioli, md refsums disease rd heredopathia atactica polyneuritiformis is a hereditary deficiency of ahydroxylation of phytanic acid. The author reports his experience on refsum s disease and that gained after personally examining in detail 64 patients with charcotmarietooth disease over the past ten years. Refsum disease is an autosomal recessive neurological disease that results in the overaccumulation of phytanic acid in cells and tissues.
1587 600 952 1046 229 1330 365 1202 1225 1111 142 349 962 333 471 550 473 1153 1105 1093 796 732 1644 426 1291 1615 1020 633 861 458 946 931 781 1488 452 76 372 654