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