Xanthomatosis cerebrotendinous xanthomatosis is an autosomal recessive disease characterizedby xanthomas, cataracts, progressive cerebellar ataxia and dementia. http://www.amershamhealth.com/medcyclopaedia/Volume III 1/XANTHOMATOSIS.asp
Extractions: *For Medical Professionals only, registration required Xanthomatosis, a condition characterized by the presence of multiple xanthomas . These disorders have a predilection for involving tendons about the hands, elbows and heels. Variable numbers of foam cells are seen in the tumours. In some cases xanthomatosis is associated with metabolic or endocrine disorders, such as hypercholesterolaemia and diabetes mellitus . In the hyperlipoproteinaemias , xanthomatous collections occur in soft tissue, tendinous, subperiosteal and intraosseous locations. Cerebrotendinous xanthomatosis is an autosomal recessive disease characterized by xanthomas, cataracts, progressive cerebellar ataxia and dementia. The biochemical basis is unknown, but cholesterol and cholesterol-like crystals accumulate in the xanthomas and in the white matter of the brain.
Cerebrotendinous Xanthomatosis Meddie Health Search A Case of cerebrotendinous xanthomatosis A case study 26year-old female developedmental deterioration, general convulsion, cataract and spastic gait in order http://www.meddie.com/search/Health/Conditions_and_Diseases/Nutrition_and_Metabo
Cholesterol And Other Fats Meddie Health Search CATEGORIES cerebrotendinous xanthomatosis (5). Fabry's (8). Gaucher's (15). Hyperlipidemia(7). NiemannPick (4). Refsum's (5). Sitosterolemia (3). Tangier (3). http://www.meddie.com/search/Health/Conditions_and_Diseases/Nutrition_and_Metabo
Neuropathy: Childhood Mucopolysaccharidosis, Fibroblast Vascular Schwann cell. cerebrotendinous xanthomatosis,Schwann cell. Wolman's disease, All. Sialidosis, type 1, Schwann cell. http://www.neuro.wustl.edu/neuromuscular/time/child.html
Cerebrotendinous Xanthomatosis Resources On The Internet HealthCyclopedia, cerebrotendinous xanthomatosis. Health News, CerebrotendinousXanthomatosis Case study of a 15 year old male student. http://www.healthcyclopedia.com/cerebrotendinous_xanthomatosis.html
Extractions: The eLibrary newspaper and magazine archive contains articles from current and back issues of hundreds of publications, including: Modern Medicine Aging The Ardell Wellness Report HealthFacts The Journal of Environmental Health Medical Post Medical Update Men's Health and the National Women's Health Report
Type_Document_Title_here Back to Main List cerebrotendinous xanthomatosis. Xanthomas is a termdescribing the presence of yellowish fatty tumours on the tendons http://home.vicnet.net.au/~leuko/ctx.html
Extractions: Back to Main List Xanthomas is a term describing the presence of yellowish fatty tumours on the tendons, which is a specific finding in the diagnosis of Cerebrotendinous Xanthomatosis. Most often found in the Achilles tendon, this revealing attribute tends to be missed unless specifically looked for. Patients with CTX may present first with cataracts or with mild mental retardation. Later on, patients may develop seizures, emotional or psychiatric disturbances, and motor deficits. CTX has an autosomal recessive pattern of inheritance. CTX is usually diagnosed by measuring the levels of bile alcohols in blood or urine, or of a substance called cholestanol in the blood. Cholestanol resembles cholesterol chemically, but can be distinguished from it by special chemical tests. The biochemical basis of CTX is complex, but advances are beginning to be made toward understanding it. Diagnosis of the illness is important, since it is by far the most treatable of the leukodystrophies. Much encouragment has been gained through the observation that certain bile acids, administered orally, can prevent further progression of the illness, and may even bring about improvement. There is a very favorable response to chenodeoxycholic acid, a medication that can be taken by mouth.
1998 - Journal Of Dermapathology Özet cerebrotendinous xanthomatosis (CTX) tanisi alan 43 yasindaki erkekhastanin 25 senedir sol topukta asil tendonu üzerinde ve diz altinda, 4 http://www.ato.org.tr/konuk/tdp/tjod/1998-01/9852.html
Extractions: Cerebrotendinous xanthomatosis (CTX) tanýsý alan 43 yaþýndaki erkek hastanýn 25 senedir sol topukta aþil tendonu üzerinde ve diz altýnda, 4 senedir sað topukta aþil tendonu üzerinde ve sað dizde semimobil ve aðrýsýz kitleleri mevcuttu. Oldukça nadir olan ve otozomal resessif olarak geçen CTX'in klinik bulgularý; tendinöz ksantomalar, katarakt, nörolojik fonksiyon bozukluðu, demans, ataksi, hafifçe yüksek serum kolesterol seviyesi ve koroner arter hastalýðýdýr. Çoðunlukla lezyonlar el ve ayakta ekstensör tendonlarýn üzerinde ortaya çýkabileceði gibi aþil ve patella tendonlarý da tutulabilmektedir.
ClinicalTrials.gov - Linking Patients To Medical Research: Results 7. Recruiting, Phase II Study of Cholesterol and Cholestanol-Free Diet, Lovastatin,and Chenodeoxycholic Acid for cerebrotendinous xanthomatosis Condition http://www.clinicaltrials.gov/ct/gui/action/SearchAction?term=Cholesterol
Searchalot Directory For Cerebrotendinous Xanthomatosis Related Web Sites. cerebrotendinous xanthomatosis CTX Symptomspresented with this disease, the diagnosis and the treatment. A http://www.searchalot.com/Top/Health/ConditionsandDiseases/NutritionandMetabolis
Extractions: Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases Nutrition and Metabolism Disorders ... Cholesterol and Other Fats : Cerebrotendinous Xanthomatosis Related Web Sites Cerebrotendinous Xanthomatosis: CTX - Symptoms presented with this disease, the diagnosis and the treatment.
Searchalot Directory For C Palsy (165); Cerebrocostomandibular Syndrome (4); CerebrohepatorenalSyndrome (5); cerebrotendinous xanthomatosis (5); Cervical Cancer http://www.searchalot.com/Top/Health/ConditionsandDiseases/C/
Extractions: Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases : C All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo!
Endocrine Practice May/June 2001 What is the diagnosis? Fig 1 Fig 2. Answer cerebrotendinous xanthomatosis.An oilfree diet was prescribed. Assay of lipoprotein http://www.aace.com/pub/ep/200103ep.php
Journal Of Arthroplasty And Arthroscopic Surgery 12, No1 (9193), 2001 cerebrotendinous xanthomatosis cerebrotendinous xanthomatosisis a rare metabolic disease of autosomal recessive inheritance. http://arthroplasty-arthroscopy.mc.metu.edu.tr/2001/no1-16.html
Extractions: Fatih EKSIOGLU, Eftal GUDEMEZ, Onder BOZDOGAN, Deniz ALTINOK, Sedat ULKATAN Cerebrotendinous Xanthomatosis is a rare metabolic disease of autosomal recessive inheritance. Clinical findings include, tendon xanthoma, cataract, neurological dysfunction, ataxia, dementia, slightly high serum cholesterol levels. We report a case aged 17 had painless, semimobile, solid masses on her both achilles tendon diagnosed as Cerebrotendinous xanthomatosis. Cerebrotendinous xanthomatosis must be considered in the diagnosis of patients with tendon xanthoma, cataract, neurological dysfunction, ataxia, dementia, slightly high serum cholesterol levels. Key Words : Cerebrotendinous Xanthomatosis, Achilles Tendon. BACK TO INDEX PAGE
Directory :: Look.com cerebrotendinous xanthomatosis (5) See Also. Health cerebrotendinous xanthomatosisCase study of a 15 year old male student. Cerebrotendinous http://www.look.com/searchroute/directorysearch.asp?p=433674
Service Page - Pathologie Information DISEASE Xanthomatosis cerebrotendinous, CIM E75.5, cerebrotendinous xanthomatosisis an autosomal recessive disorder with juvenile onset. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=909
Endotext.com - Diseases Of Bone And Calcium Metabolism, Ch 9 Bibliography Hsieh, CL, Francke, U., Russell, DW 1991 Mutations in the bile acid biosyntheticenzyme sterol 27hydroxylase underlie cerebrotendinous xanthomatosis J Biol http://www.endotext.org/parathyroid/parathyroid3/parathyroidbiblio3.htm
Extractions: 1. Whistler, D. 1645 De morbo puerli anglorum, quem patrio ideiomate indigenae vocant "the rickets" J Hist Med;5:397-415. 2. Mellanby, E. 1919 An experimental investigation on rickets. Lancet;1:407-412. 3. McCollum, E.V., Simmonds, N., Becker, J.E., Shipley, P.G. 1922 An experimental demonstration of the existence of a vitamin which promotes calcium deposition J Biol Chem;53:293-298. 4. Steenbock, H., Black, A. 1924 Fat-soluble vitamins. XVII. The induction of growth-promoting and calcifying properties in a ration by exposure to ultraviolet light J Biol Chem;61:405-422. 5. Huldshinsky, K. 1919 Heilung von rachitis durch kunstalich hohensonne Deut Med Wochenschr;45:712-713. 6. Hess, A.F., Unger, L.F. 1921 Cure of infantile rickets by sunlight J Am Med Assoc;77:39. 7. F.A., A., Bourdillon, R.B., Bruce, H.M., Jenkins, R.G.C., Webster, T.A. 1931 The distillation of vitamin D Proc R Soc;B107:76-90. 8. Windaus, A., Schenck, F., von Werder, F. 1936 Uber das antirachitisch wirksame bestrahlungs-produkt aus 7-dehydro-cholesterin. Hoppe-Seylers Z Physiol Chem;241:100-103. 9. Holick, M.F., Richtand, N.M., McNeill, S.C., Holick, S.A., Henley, J.W., J.T., P.J. 1979 Isolation and identification of previtamin D3 from the skin of exposed to ultraviolet irradiation Biochemistry;18:1003-1008.
Birth Disorder Information Directory - CA-CL Cerebroside Sulfatase Deficiency See Metachromatic Leukodystrophy.cerebrotendinous xanthomatosis See Xanthomatosis Cerebrotendinous. http://www.bdid.com/defectca.htm
Extractions: HOME C Syndrome (Opitz Trigonocephaly Syndrome) C-II Anapolipoproteinemia CADASIL Caffey Disease (Infantile Cortical Hyperostosis) Cahmr Syndrome (Cataract Hypertrichosis Mental Retardation) Calcinosis Raynaud Phenomenon with Sclerodactyly and Telangiectasis Calderon Gonzalez Cantu Syndrome (Hair Defect Photosensitivity Mental Retardation) Calloso Genital Dysplasia Callus Disease Calpainopathy Calvarial Hyperostosis Camera Lituania Cohen Syndrome (Genes Syndrome, Genoa Syndrome, Holoprosencephaly Craniosynostosis) camera lituania cohen syndrome HOLOPROSENCEPHALY, SEMILOBAR, WITH CRANIOSYNOSTOSIS
POSTER NUMERO 17 Translate this page BIBLIOGRAFIA. 1. - Federico A., Dotti MT cerebrotendinous xanthomatosis. et al.cerebrotendinous xanthomatosis. Neurologic Clinics.Vol.7. número 1, 55-75. http://neurologia.rediris.es/congreso-1/posters/p-17.html
Extractions: POSTER NUMERO 17 F. Escamilla, R.M. Vilches, D. Fernández, C. Carnero y T. García. Dirección de correo electrónico: ccarnerop@meditex.es TITULO AUTORES RESUMEN ... VOLVER AL INDICE DE POSTERS Presentamos el caso y la iconografía de los rasgos fenotípicos así como de las alteraciones en las pruebas neurofisiológicas y de imagen más características de la xantomatosis cerebrotendinosa que nos permiten llegar al diagnóstico, con posterior diagnóstico de certeza al comprobar el aumento del colestanol plasmático y de los alcoholes biliares en orina. Mujer de 43 años, con antecedentes de afaquia bilateral por cataratas juveniles intervenidas y ligero retraso mental; fue remitida para estudio por alteración de la marcha progresiva a lo largo de 10 años, apreciándose sobre todo al caminar sobre planos inclinados. No refiere alteraciones esfinterianas, ni de la sensibilidad ni de la coordinación. La exploración general objetivó engrosamiento de ambos tendones aquíleos, en especial el derecho ( Figuras 1 y ); en el examen neurológico había una facies miopática y pie cavo bilateral, piramidalismo generalizado con clonus aquíleo y Babinski bilateral, espasticidad discreta en miembros inferiores, discreta paresia del grupo muscular anteroexterno del miembro inferior derecho, abolición distal de sensibilidad vibratoria, Romberg con baile de tendones y marcha ataxoparetoespástica, con un componente de estepaje en pie derecho, dificultad para caminar de talones bilateralmente. Exploraciones complementarias: analítica general, hemograma, hormonas tiroideas, proteinograma e inmunoglobulinas, vitamina B12, fólico, y estudios serológicos normales. EKG y radiografía de tórax sin hallazgos patológicos. EEG (
Conditions And Diseases Nutrition And Metabolism Disorders Information on Conditions and Diseases, Nutrition and Metabolism Disorders, Cholesteroland Other Fats, cerebrotendinous xanthomatosis and much more Treasure http://treasurecoasthealth.com/treasurecoasthealth.php/Health/Conditions_and_Dis
