An eponymous disease is a disease, disorder, condition, or syndrome named after a person. The effect of prednisolone in refsums disease springerlink. The case reports ofthree cases of refsums syndrome are presented, and the under lying metabolic. 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. This may be due to deficiencies of phytanoylcoa hydroxylase or peroxin7 activity. Gaschromatographic procedure, with pyrolytic methylation of serum fatty acids, in the diagnosis of refsum s syndrome article pdf available in clinical chemistry 302.
The cerebellar incoordination in charcotmarietooth disease with or without distal wasting and in refsum. Retinal disorders retina macular degeneration medlineplus. 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. D unusual nora boy bedig lone star ranger, the by grey. Le manuel du resident dermatologie pdf free download. Refsum disease is a peroxisomal disorder caused by the impaired alphaoxidation of branched chain fatty acids resulting in buildup of phytanic acid and its derivatives in the plasma and tissues. Cette symptomatologie est secondaire a laccumulation dun acide gras, lacide phytanique. Get a printable copy pdf file of the complete article 427k.
In most patients signs of skin, heart and eye disease. B vitamins may lower the risk of dementia, yet epidemiological findings, mostly from countries with folic acid fortification, have remained inconsistent. Axonal neuropathy and late detection of refsums disease. Progressive muskeldystrophie myotonie myasthenie symposium vom 30. Refsum disease rd is a neurocutaneous syndrome that is characterized biochemically by the accumulation of phytanic acid in plasma and tissues. The retina is a layer of tissue in the back of your eye that senses light and sends images to your brain.
This page was last edited on 9 february 2019, at 15. An unusual complication in one case was the development of renal failure. All structured data from the file and property namespaces is available under the creative commons cc0 license. Clinicians will also find much of interest here, especially the section on diet for treatment of adult refsum s disease. The cardinal eye symptoms of refsums disease are night blindness, retinal pigmentary degeneration and constriction of the visual fields. Guillainbarre syndrome gbs is a rapidonset muscle weakness caused by the immune system damaging the peripheral nervous system. Refsums syndrome with corneal involvement sciencedirect. Free download or read online le malade imaginaire pdf epub book. The treatment consists of a phytanicacid free diet sometimes associated with. The cardinal eye symptoms of refsum s disease are night blindness, retinal pigmentary degeneration and constriction of the visual fields.
Files are available under licenses specified on their description page. A 16 year old schoolgirl with an established peripheral neuropath motor conduction velocity in peroneal nerve of 5 metressec. The initial symptoms are typically changes in sensation or pain along with muscle weakness, beginning in the feet and hands, often spreading to the arms and upper body, with both sides being involved. This collection contains automatically mirrored copies of all public documents uploaded to pdfy, a pdf hosting service. Is the cerebellar incoordination of refsums disease due to. 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. Pdf le malade imaginaire book by moliere free download. Patients with refsum disease are unable to degrade phytanic acid because of a deficient activity of phytanoylcoa hydroxylase phyh, a peroxisomal enzyme catalyzing the first step of phytanic acid a. Is the cerebellar incoordination of refsum s disease due to structural lesions in the cerebellum. Hepatomegaly, facial dysmorphia, growth andor mental retardation and osteopenia were observed in addition to retinitis pigmentosa and neurosensory deafness. The disease is characterized by pigmentary retinal degenerationretinitis pigmentosachronic polyneuropathy, ataxia, and an increase in cerebrospinal fluid protein with normal cell content. The presence of phytanic acid in serum 160320 mol1 50100 gml was accompanied by hypocholesterolaemia. Is the cerebellar incoordination of refsums disease due. Audiological findings in infantile refsum disease request pdf.
Localization of the oxidative defect in phytanic acid. Refsum disease is one of a family of genetic disorders known as the. Pmc free article van bogaert l, van mechelen p, martin jj, guazzi gc. Nutrients free fulltext dietary b vitamins and a 10year. Their clinical findings are summarized and tabulated. Get a printable copy pdf file of the complete article 3. The disease is characterized by pigmentary retinal degenerationretinitis pigmentosachronic polyneuropathy, ataxia, and an increase in. We evaluated in a large french cohort of older persons the associations between dietary b vitamins and longterm incident dementia.
In refsums disease an inborn error of metabolism is associated with or causing. Unlisted private documents are not included in this collection. Refsum disease nord national organization for rare disorders. The main characters of this cultural, france story are angelique, argan. Full text full text is available as a scanned copy of the original print version. This autosomally recessive condition leads to an accumulation of phytanic acid in various tissues including the central. This site is like a library, you could find million book here by. Refsum s disease, acta neurologica scandinavica on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. Write an article on eponyms you can share your exam experiences, preparation strategies, books you have read or just any information about eponyms on rxpg website and we will publish it under your name.
Elevated levels of free phytanate in the medium were no more toxic to hap cells than to control cells. Bonduelle m, bouygues p, lormeau g, deloux g, laudat p, wolf lm. 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. Clinicopathological study of refsums disease with particular. Similarities with or differences from retinitis pigmentosa are discussed.
They can affect your vision, and some can be serious. Amsterdam, northholland publishing co, 1975, vol 21, part 1, pp 181229. Refsums syndrome affecting a brother and two sisters. Experiments with three patients suffering from refsum s disease suggest a defect in the omega oxidation of fatty acids 27.
Cest des taches melaniques dapparition aleatoire et qui restent en place. Phytanic acid storage disease refsum s disease, in vinken pj, bruyn gw eds. Rocchiccioli, md refsum s disease rd heredopathia atactica polyneuritiformis is a hereditary deficiency of ahydroxylation of phytanic acid. All patients were afflicted by polyneuritis paralysis, lacking tendon reflexes, albuminocytological dissociation, cerebellar ataxia, hemeralopia and retinitis pigmentosa.
Ichthyosiform dermatosis with systemic lipidosis jama. Dominantly inherited hypertrophic neuropathy canadian. Current and emerging therapy for primary pulmonary. The book was published in multiple languages including french, consists of 255 pages and is available in mass market paperback format. Welcome to the adult refsum s disease website it contains. Depuis sa description en 1946 par sigvald refsum, son pronostic s. All books are in clear copy here, and all files are secure so dont worry about it. Infantile phytanic acid storage disease, a possible variant. Refsums syndrome, a hereditary disorder of the nervous system, was first described under the title of heredopathia atactica polyneuritiformis by sigvald. Refsum s disease heredopathia atactica polyneuritiformis, hap is an inherited neurological disorder associated with storage of the branchedchain fatty acid, phytanic acid 3,7,11,15tetramethylhexadecanoic acid. Alzheimers disease, cerebrovascular disease, and the. Click on disease or condition by first letter for more information.
Refsums disease heredopathia atactica polyneuritiformis. It provides the sharp, central vision needed for reading, driving and seeing fine detail. We included 21 participants from the threecity study who completed a 24 h dietary recall, were free of. 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 pathology, in general, was that already described in this condition. The first edition of the novel was published in 1673, and was written by moliere. Information for patients, their families, and helpers what adult refsum s disease is, and what to do if you are affected by it. In general, refsum disease is caused by phyh mutations. Infantile phytanic acid storage disease, a possible. Information for clinicians more detailed and specialist material. Alphabetical guide of diseases and conditions from mayo clinic experts. 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. This chapter discusses refsum s disease, which is a biochemically welldefined disease for which there is a specific dietary treatment.
The full text of this article is available in pdf format. Is the cerebellar incoordination of refsums disease due to structural lesions in the cerebellum. Three cases of phytanic acid storage disease with symptoms during the first months of life are reported. The rate of oxidation of phytanic acidu14 c to 14 co 2 in three patients with refsum s disease was less than 5% of that found in normal volunteers.
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