21. 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

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *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. DR The Encyclopaedia of Medical Imaging Volume III:1 Welcome to Medcyclopaedia.

22. 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

23. 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

24. Metabolic Ataxias Dietary Phytanic Acid Restriction. cerebrotendinous xanthomatosis. l Cytochrome450, subfamily XXVII (Sterol 27hydrolase); Chromosome 2q33-qter; Recessive http://www.neuro.wustl.edu/neuromuscular/ataxia/metatax.html

Front Search Index Links ... Patient Info METABOLIC ATAXIAS Abetalipoproteinemia Biotinidase Deficiency Carnitine acetyltransferase Cerebrotendinous Xanthomatosis ... Wilson's Disease General features Usually Autosomal Recessive Multisystem Involvement Dietary treatments often effective Hartnup l Chromosome 11q13 Biochemistry Abnormal neutral a -amino acid transport Clinical Features Rash: Photosensitive Ataxia: Intermittent Emotional Instability Treatment Nicotinamide: 25 mg/day Maple Syrup Urine Disease (Intermittent Form) l Branched chain keto acid dehydrogenase E1, alpha polypeptide ; Chromosome 19q13.2 Protein: Branched-chain alpha-keto dehydrogenase complex Mitochondrial Catalyzes overall conversion of alpha-keto acids to acyl-CoA and CO Clinical Features Intermittent events: Ataxia, Drowsiness, Seizures Onset during 2nd year Attacks after infection, surgery, high protein Patients without therapy Mental retardation Extrapyramidal: Dystonia; Athetosis; Dysarthria Tetraplegia Ophthalmoplegia Subclinical neuropathy: Mildly slow sural SNAPs Acute axonal neuropathy: Adult; ? Specific mutation

25. 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

Front Search Index Links ... Patient Info CHILDHOOD ONSET POLYNEUROPATHIES See storage inclusions Hereditary Axonal or Neuronal Myelin disorders A-beta-lipoproteinemia Adrenomyeloneuropathy An- ... Glycogenosis, Type 3 HMSN: II Infantile axonal + Respiratory failure Infantile Onset Spinocerebellar Ataxia (IOSCA) LCHADD ... Lethal neonatal Methylenetetrahydrofolate Reductase Mitochondrial MNGIE NARP Leigh ... Sensory Neuropathies Spinal muscular atrophy: Proximal Distal Tyrosinemia Carbohydrate-deficient glycoprotein ... Farber's lipogranulomatosis HMSN Dominant: CMT: IA IB III HNPP ... Thermosensitive Recessive: CMT: III 4D (LOM) HMSN-R CNS X-linked: IX Krabbe Metachromatic Leukodystrophy Niemann-Pick ... Thermosensitive Acquired Immune Toxic CIDP Acute motor axonal neuropathy (AMAN) Diphtheria ... Drugs Metabolic Other Diabetes Mellitus Vitamin B deficiency Carpal tunnel syndrome STORAGE INCLUSIONS Type Disease Cellular localization Osmophilic with periodicity Bilbao Metachromatic Leukodystrophy Schwann cell Macrophage Axon Fabry's Vascular Perineurial Schwann cell, non-myelinating Niemann-Pick, Type 1 All except axon Batten-Kufs Schwann cell Vascular Fibroblast Toxic (Lysosomal) Amiodarone Chloroquine Perhexiline Similar inclusions: Cockayne Nerve: Perineurial;

26. 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

Home Health Conditions by Category ... Contact Us Cerebrotendinous Xanthomatosis Health News Search millions of published articles for news on Cerebrotendinous Xanthomatosis 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 Note: To access the full text of articles, sign up for a seven-day no-risk free trial subscription to eLibrary. Web Directory Web Links: A Case of Cerebrotendinous Xanthomatosis - A case study 26-year-old female developed mental deterioration, general convulsion, cataract and spastic gait in order since her entrance into elementary school. Cerebrotendinous Xanthomatosis - Case study of a 15 year old male student. Cerebrotendinous Xanthomatosis - A description of this rare disease, its symptoms, diagnosis and treatment. Cerebrotendinous Xanthomatosis - WorldMedicus - A definition and alternate name used for this disease. Cerebrotendinous Xanthomatosis: CTX - Symptoms presented with this disease, the diagnosis and the treatment.

27. 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

Back to Main List CEREBROTENDINOUS XANTHOMATOSIS 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.

28. 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

Year:1998 No:1-2 Vol:8 Serebrotendinöz Ksantomatozis* Dr. Gülçin ALTINOK1, Dr. Aytaç GÖKÖZ1, Dr. Eser YÜKSEL2 Hacettepe Üniversitesi Týp Fakültesi Patoloji1, Plastik ve Rekonstrüktif2 Cerrahi Anabilim Dalý Özet 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. Anahtar sözcükler: Serebrotendinöz ksantomatozis, aþil tendonu, ksantoma Summary Cerebrotendinous xanthomatosis The patient aged 43, had semimobile, painless grayish yellow masses on his left achilles tendon for 25 years and right achilles tendon and knee for 4 years, diagnosed as Cerebrotendinous Xanthomatosis (CTX).

29. ClinicalTrials.gov - Linking Patients To Medical Research: Study Details Phase II Study of Cholesterol and Cholestanol-Free Diet, Lovastatin,and Chenodeoxycholic Acid for cerebrotendinous xanthomatosis. http://www.clinicaltrials.gov/ct/gui/show/NCT00004346?order=7

30. 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

31. 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

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. A Case of Cerebrotendinous Xanthomatosis - A case study 26-year-old female developed mental deterioration, general convulsion, cataract and spastic gait in order since her entrance into elementary school. Cerebrotendinous Xanthomatosis - Case study of a 15 year old male student. Cerebrotendinous Xanthomatosis - WorldMedicus - A definition and alternate name used for this disease.

32. Searchalot Directory For C Palsy (165); Cerebrocostomandibular Syndrome (4); CerebrohepatorenalSyndrome (5); cerebrotendinous xanthomatosis (5); Cervical Cancer http://www.searchalot.com/Top/Health/ConditionsandDiseases/C/

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 Campylobacter Pylori Canavan Disease Cancer Candida ... Cytomegalovirus 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!

33. 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

Quick Search AACEOnline Register Now Members Only Login Your e-mail password Need help logging in? Click here. May/June 2001 ORIGINAL ARTICLES Loss of Heterogeneous Ribonucleoprotein A /B Expression in Thyroid Neoplasms P Bidot, M Morgan, T Zhukov, M Tannenbaum, MS Tockman Comparison of Effects of Thiazolidinediones on Cardiovascular Risk Factors: Observations from a Clinical Practice CG Gegick, MD Altheimer Longitudinal Assessment of Economic Burden and Clinical Outcomes in Acromegaly LS Wilson, JL Shin, S Ezzat Anticardiolipin Antibodies in Hashimoto's Disease O Osundeko, S Hasinski, LI Rose CASE REPORTS Liver Involvement and Abnormal Iron Variables in Undiagnosed Addison's Disease AA Rizvi, JG Kerrick Parathyromatosis: A Cause for Recurrent Hyperparathyroidism PC Lee, RB Mateo, MR Clarke, ML Brown, SE Carty Use of Soy Protein Supplement and Resultant Need for Increased Dose of Levothyroxine DSH Bell, F Ovalle REVIEW ARTICLES Practical Application of Recombinant Thyrotropin Testing in Clinical Practice PW Ladenson, ME Ewertz, RA Dickey Visual Vignette Submitted by Adriane I. Budavari, MD, and Michael D. Whitaker, MD, FRCPC

34. 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

Arthroplasty Arthroscopic Surgery Vol. 12, No:1 (91-93), 2001 Cerebrotendinous Xanthomatosis 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

35. 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

36. 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

37. 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

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.

38. Birth Disorder Information Directory - CA-CL Cerebroside Sulfatase Deficiency See Metachromatic Leukodystrophy.cerebrotendinous xanthomatosis See Xanthomatosis Cerebrotendinous. http://www.bdid.com/defectca.htm

HOME Ca-Cl C Syndrome (Opitz Trigonocephaly Syndrome) C SYNDROME Opitz Trigonocephaly Syndrome Family Network c syndrome C-II Anapolipoproteinemia See Hyperlipoproteinemia, Type Ib CADASIL See Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (Includes Photos) Cafe au lait spots syndrome CAFE-AU-LAIT SPOTS, MULTIPLE Caffey Disease (Infantile Cortical Hyperostosis) List of Sites Cahmr Syndrome (Cataract Hypertrichosis Mental Retardation) cahmr syndrome CAHMR SYNDROME Calcinosis Raynaud Phenomenon with Sclerodactyly and Telangiectasis See CREST Syndrome Calderon Gonzalez Cantu Syndrome (Hair Defect Photosensitivity Mental Retardation) calderon gonzalez cantu syndrome HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION Calloso Genital Dysplasia calloso genital dysplasia Callus Disease Outpatient Clinics in France Calpainopathy See Muscular Dystrophy, Limb-Girdle Type, Type IIa Calvarial Hyperostosis calvarial hyperostosis CALVARIAL HYPEROSTOSIS Camera Lituania Cohen Syndrome (Genes Syndrome, Genoa Syndrome, Holoprosencephaly Craniosynostosis) camera lituania cohen syndrome HOLOPROSENCEPHALY, SEMILOBAR, WITH CRANIOSYNOSTOSIS

39. 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

POSTER NUMERO 17 TITULO XANTOMATOSIS CEREBROTENDINOSA AUTORES 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 RESUMEN 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. INTRODUCCION PRESENTACION DEL CASO 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 (

40. 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

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