Refsums disease rd, also called heredopathia atactica polyneuritiformis, is a rare disorder with an autosomal recessive mode of inheritance, characterized by accumulation of. 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. We describe the ophthalmic manifestations of 3 cases of infantile refsums disease. Bonduelle m, bouygues p, lormeau g, deloux g, laudat p, wolf lm. The cerebellar incoordination in charcotmarietooth disease with or without distal wasting and in refsum s disease is analysed. 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. Vision loss occurs as the lightsensing cells of the. Refsum disease is an autosomal recessive neurological disease that results in the overaccumulation of phytanic acid in cells and tissues. Wo2004006911a2 compositions destinees au traitement des. 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. Click on disease or condition by first letter for more information. Infantile phytanic acid storage disease, a possible variant.
The pathology, in general, was that already described in this condition. An unusual complication in one case was the development of renal failure. The cardinal eye symptoms of refsums disease are night blindness, retinal pigmentary degeneration and constriction of the visual fields. They can affect your vision, and some can be serious enough to cause blindness. The cerebellar incoordination in charcotmarietooth disease with or without distal wasting and in refsums disease is analysed. 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. Macular degeneration a disease that destroys your sharp, central vision. Retinal detachment a medical emergency, when the retina is pulled away from the back of the eye. Clinicopathological study of refsums disease with particular reference to fatal complications. This page was last edited on 9 february 2019, at 15. Amsterdam, northholland publishing co, 1975, vol 21, part 1, pp 181229. The clinical and pathological findings in two brothers with biochemically diagnosed refsums disease are given. The clinical and pathological findings in two brothers with biochemically diagnosed refsum s disease are given.
Full text is available as a scanned copy of the original print version. Infantile phytanic acid storage disease, a possible. Files are available under licenses specified on their description page. Cacosmie au cours dun traitement par esomeprazole emconsulte. All structured data from the file and property namespaces is available under the creative commons cc0 license. Full text full text is available as a scanned copy of the original print version. 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. Rocchiccioli, md refsums disease rd heredopathia atactica polyneuritiformis is a hereditary deficiency of ahydroxylation of phytanic acid. The gravity and the aspect of the retinal disorders which we have observed by ophthalmoscopy and electroretinography were quite different from one. Refsum disease typically is adolescent onset and is diagnosed by above average levels of phytanic acid.
Phytanic acid storage disease refsums disease, in vinken pj, bruyn gw eds. We describe the ophthalmic manifestations of 3 cases of infantile refsum s disease. 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. This disorder affects the retina, the lightsensitive layer at the back of the eye. 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. Links to pubmed are also available for selected references. Phytanic acid storage disease refsum s disease, in vinken pj, bruyn gw eds.
Is the cerebellar incoordination of refsums disease due to structural lesions in the cerebellum. Is the cerebellar incoordination of refsums disease due. Issuu is a digital publishing platform that makes it simple to publish magazines, catalogs, newspapers, books, and more online. Alphabetical guide of diseases and conditions from mayo clinic experts. It is one of several disorders named after norwegian neurologist sigvald bernhard refsum 19071991. This autosomally recessive condition leads to an accumulation of phytanic acid in various. Audiological findings in infantile refsum disease request pdf. Cest relativement rare et aucun traitement nest a faire hormis une surveillance. Le 2 hydroxyphytanoylcoa est ensuite converti en acide pristanique qui peut ensuite. Similarities with or differences from retinitis pigmentosa are discussed. Axonal neuropathy and late detection of refsums disease. Easily share your publications and get them in front of issuus. Clinicopathological study of refsums disease with particular.
Refsum disease is a rare disorder of lipid metabolism that is inherited as a recessive trait. 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. Federation des etablissements pour personnes maladie neuro. 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.
The presence of phytanic acid in serum 160320 mol1 50100 gml was accompanied by hypocholesterolaemia. Elle associe une retinite pigmentaire, une atteinte. Is the cerebellar incoordination of refsums disease due to. Get a printable copy pdf file of the complete article 427k, or click on a page image below to browse page by page. Refsums syndrome affecting a brother and two sisters.
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