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