1. CEREBROTENDINOUS XANTHOMATOSIS Case study of a 15 year old male student.Category Health Conditions and Diseases......cerebrotendinous xanthomatosis. AR Malik young adult. Here is a case reportof a fifteen year old male with cerebrotendinous xanthomatosis. http://www.bhj.org/journal/1997/3901_jan/case_180.htm

2. A Case Of Cerebrotendinous Xanthomatosis A case study 26year-old female developed mental deterioration, general convulsion, cataract and spastic gait in order since her entrance into elementary school. http://www.aegis.com/pubs/aidsline/1992/feb/M9220699.html

Important note: Information in this article was accurate in 1992. The state of the art may have changed since the publication date. [A case of cerebrotendinous xanthomatosis with spastic paraparesis, epilepsy, and bradykinesia] Rinsho Shinkeigaku. 1991 Jun;31(6):677-9. Unique Identifier : AIDSLINE MED/92035948 Kondo R; Wakamatsu N; Ishikawa A; Yuasa T; Miyatake T; Department of Neurology, Niigata University. Abstract: Keywords: Adult Brain Diseases/*COMPLICATIONS/DRUG THERAPY Case Report Chenodeoxycholic Acid/THERAPEUTIC USE English Abstract Epilepsy/*ETIOLOGY Female Human Movement Disorders/*ETIOLOGY Muscular Diseases/COMPLICATIONS/DRUG THERAPY Paraparesis, Tropical Spastic/*ETIOLOGY *Tendons Xanthomatosis/*COMPLICATIONS/DRUG THERAPY JOURNAL ARTICLE National Library of Medicine . Reproduced under license with the National Library of Medicine, Bethesda, MD. AEGiS is made possible through unrestricted grants from Boehringer Ingelheim iMetrikus, Inc. , the National Library of Medicine , and donations from users like you. Always watch for outdated information. This article first appeared in 1992. This material is designed to support, not replace, the relationship that exists between you and your doctor. AEGiS presents published material, reprinted with permission and neither endorses nor opposes any material. All information contained on this website, including information relating to health conditions, products, and treatments, is for informational purposes only. It is often presented in summary or aggregate form. It is not meant to be a substitute for the advice provided by your own physician or other medical professionals. Always discuss treatment options with a doctor who specializes in treating HIV.

3. Introduction To Leukodystrophy Metachromatic Leukodystrophy. NiemannPick. Adrenoleukodystrophy. cerebrotendinous xanthomatosis. Toxins http://www.ulf.org/ulf/intro

U NITED L EUKODYSTROPHY F OUNDATION 2304 Highland Drive * Sycamore, Illinois USA 60178 * Phone: (800) 728-5483 * FAX: (815) 895-2432 Introduction to Leukodystrophy Outlined below are brief introductions to the leukodystrophies. Further extensive in-depth research information is available on these subjects and more through the ULF library of printed and videotape materials. When requesting further information please let us know whether you are a professional or lay-person so that we can respond with the appropriate information level. Introduction Patterns of Inheritance Adrenoleukodystrophy (ALD)/Adrenomyeloneuropathy (AMN) Aicardi-Goutieres Syndrome ... Zellweger Syndrome INTRODUCTION The leukodystrophies are genetically determined progressive disorders that affect the brain, spinal cord and peripheral nerves. The term leukodystrophy derives from the Greek words "leuko" meaning white and referring to the white matter of the nervous system and "dystrophy" meaning imperfect growth or development. White matter is white to the naked eye because it contains a complex chemical substance called the myelin sheath. Myelin contains a variety of fatty substances or lipids. Its function is to insulate the axon through which nerve impulses are conducted, much as does insulation around an electric wire; the axon being the biological equivalent of the wire. The myelin sheath is a very complex substance. It is made up of at least ten, and probably more distinct chemicals. Each of the leukodystrophies affects one (and only one) of these substances that all affect the myelin sheath in some way, but otherwise, they are totally separate. Leukodystrophy of one type, does not in any way predispose to, or increase the risk of another type of leukodystrophy.

4. Genetic Conditions / Rare Conditions Information Site Canavan Disease (Spongy Degeneration), cerebrotendinous xanthomatosis (CTX), Globoid Cell (Krabbes) Leukodystrophy, http://www.kumc.edu/gec/support

Genetic and Rare Conditions Site Medical Genetics, University of Kansas Medical Center Lay advocacy and support groups, information on genetic conditions /birth defects for professionals, educators, and individuals, National and International organizations · Categories Genetic Counselors and Geneticists Children and teen sites Advocacy ... Z Revised March 21, 2003 Aarskog syndrome Achondroplasia Achromatopsia Acoustic neuroma (and benign cranial nerve tumors) Adrenal hyperplasia Adrenoleukodystrophy Agenesis of corpus callosum Aicardi syndrome ... Arthrogryposis (amyoplasia) Ataxia (Friedreich ataxia, spinocerebellar ataxias, ataxia telangiectasia, essential tremor, spastic paraplegia, other) Autism / Asperger syndrome Bardet-Biedl syndrome Basal cell carcinoma (Gorlin syndrome) Batten disease (neuronal ceroid lipofuscinosis) Beckwith-Wiedemann syndrome Blepharophimosis Blind (vision anomalies) Brain Conditions / Disorders Branchio-Oto-Renal (BOR) syndrome Canavan Cancer ataxia telangiectasia ... Celiac sprue dermatitis herpiformis, gluten intolerance Charcot-Marie-Tooth peroneal muscular atrophy, hereditary motor sensory neuropathy

5. Introduction To Leukodystrophy Symptoms presented with this disease, the diagnosis and the treatment. http://www.ulf.org/ulf/intro/#Inf6

U NITED L EUKODYSTROPHY F OUNDATION 2304 Highland Drive * Sycamore, Illinois USA 60178 * Phone: (800) 728-5483 * FAX: (815) 895-2432 Introduction to Leukodystrophy Outlined below are brief introductions to the leukodystrophies. Further extensive in-depth research information is available on these subjects and more through the ULF library of printed and videotape materials. When requesting further information please let us know whether you are a professional or lay-person so that we can respond with the appropriate information level. Introduction Patterns of Inheritance Adrenoleukodystrophy (ALD)/Adrenomyeloneuropathy (AMN) Aicardi-Goutieres Syndrome ... Zellweger Syndrome INTRODUCTION The leukodystrophies are genetically determined progressive disorders that affect the brain, spinal cord and peripheral nerves. The term leukodystrophy derives from the Greek words "leuko" meaning white and referring to the white matter of the nervous system and "dystrophy" meaning imperfect growth or development. White matter is white to the naked eye because it contains a complex chemical substance called the myelin sheath. Myelin contains a variety of fatty substances or lipids. Its function is to insulate the axon through which nerve impulses are conducted, much as does insulation around an electric wire; the axon being the biological equivalent of the wire. The myelin sheath is a very complex substance. It is made up of at least ten, and probably more distinct chemicals. Each of the leukodystrophies affects one (and only one) of these substances that all affect the myelin sheath in some way, but otherwise, they are totally separate. Leukodystrophy of one type, does not in any way predispose to, or increase the risk of another type of leukodystrophy.

6. Bombay Hospital Journal - Case Reports Breast Lesion Vikas. M. Palkar, JJ Vyas; cerebrotendinous xanthomatosis- AR Malik, P Gudsoorkar, AN Parekh; Bhims Disease - RS http://www.bhj.org/journal/1997/3901_jan/case_toc.htm

7. [Central Sensory And Motor Conduction In Adrenoleukodystrophy ( Click here to return to AIDSLINE main menu Central sensory and motor conductionin adrenoleukodystrophy (ALD), cerebrotendinous xanthomatosis (CTX), HTLV1 http://www.aegis.com/pubs/aidsline/1989/jul/M8970752.html

Important note: Information in this article was accurate in 1989. The state of the art may have changed since the publication date. [Central sensory and motor conduction in adrenoleukodystrophy (ALD), cerebrotendinous xanthomatosis (CTX), HTLV-1-associated myelopathy (HAM) and tabes dorsalis] Rinsho Shinkeigaku. 1988 Jul;28(7):819-27. Unique Identifier : AIDSLINE MED/89169037 Ugawa Y; Kohara N; Shimpo T; Mannen T Keywords: Adrenoleukodystrophy/*PHYSIOPATHOLOGY Adult Aged Brain Diseases/*PHYSIOPATHOLOGY Cerebral Sclerosis, Diffuse/*PHYSIOPATHOLOGY Electric Stimulation English Abstract Evoked Potentials, Somatosensory Female Human HTLV-I Infections/*PHYSIOPATHOLOGY Male Middle Age *Neural Conduction Pyramidal Tracts/PHYSIOPATHOLOGY Spinal Cord Diseases/*PHYSIOPATHOLOGY Support, Non-U.S. Gov't Tabes Dorsalis/PHYSIOPATHOLOGY Xanthomatosis/*PHYSIOPATHOLOGY JOURNAL ARTICLE National Library of Medicine . Reproduced under license with the National Library of Medicine, Bethesda, MD. Boehringer Ingelheim iMetrikus, Inc. , the National Library of Medicine , and donations from users like you. Always watch for outdated information. This article first appeared in 1989. This material is designed to support, not replace, the relationship that exists between you and your doctor.

8. Cerebrotendinous Xanthomatosis - WorldMedicus A definition and alternate name used for this disease. http://www.worldmedicus.com/servlet/Controller/$700604504b5e0000.sj/

9. CEREBROTENDINOUS XANTHOMATOSIS (CTX) Features Listed For cerebrotendinous xanthomatosis (CTX). McKusick 213700. Absent/abnormalgallbladder; Ataxia; Cataract; Cerebellar abnormalities (structural); http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?384

10. THE MERCK MANUAL, Sec. 2, Ch. 16, Hypolipidemia And The Lipidoses with a lowcholesterol diet has reportedly improved other signs. cerebrotendinous xanthomatosis. (van Bogaert's Disease) http://www.merck.com/pubs/mmanual/section2/chapter16/16b.htm

This Publication Is Searchable The Merck Manual of Diagnosis and Therapy Section 2. Endocrine And Metabolic Disorders Chapter 16. Hypolipidemia And The Lipidoses Topics Hypolipidemia Lipidoses Lipidoses (Lipid Storage Diseases) Lysosomal storage diseases, characterized by lipid accumulation in reticuloendothelial cells. GAUCHER'S DISEASE (Glucocerebroside Lipidosis) A familial autosomal recessive disorder of lipid metabolism resulting in an accumulation of abnormal glucocerebrosides in reticuloendothelial cells and manifested clinically by hepatosplenomegaly, skin pigmentation changes, skeletal lesions, and pingueculae. Although uncommon, Gaucher's disease is the lipidosis seen most often by physicians. Etiology and Pathology The underlying defect appears to be a lack of glucocerebrosidase activity, which normally hydrolyzes glucocerebroside to glucose and ceramide. Onset is usually in childhood, but may occur in infancy or adulthood. The typical pathologic finding is widespread reticulum cell hyperplasia. The cells are filled with glucocerebroside and fibrillar cytoplasm, vary in shape, and have one or several small eccentrically placed nuclei. They are found in the liver, spleen, lymph nodes, and bone marrow. Symptoms, Signs, and Prognosis

11. Result Of Search 8;p;13? LERIWEILL DYSCHONDROSTEOSIS 2;q;33-ter cerebrotendinous xanthomatosis(CTX) 2;q;37 KLEIN-WAARDENBURG SYNDROME. Cytogenetic Aberrations. http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-id-look2.pl?2 q 32-ter

12. Arch Neurol -- Page Not Found 59;1975, December 2002, cerebrotendinous xanthomatosis Juvenile Cataract and ChronicDiarrhea Before the Onset of Neurologic Disease, Johannes RM Cruysberg, MD http://archneur.ama-assn.org/issues/v59n12/ffull/nlt1202-3.html

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery MSJAMA Science News Updates Meetings Peer Review Congress The page you requested was not found. The JAMA Archives Journals Web site has been redesigned to provide you with improved layout, features, and functionality. The location of the page you requested may have changed. To find the page you requested, click here HOME CURRENT ISSUE PAST ISSUES ... HELP Error 404 - "Not Found"

13. Arch Neurol -- Page Not Found cerebrotendinous xanthomatosis A Rare Disease With Diverse Manifestations AuthorInformation Mohammed H. Moghadasian, PhD; Gerald Salen, MD; Jiri J. Frohlich http://archneur.ama-assn.org/issues/v59n4/abs/nnr10017.html

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery MSJAMA Science News Updates Meetings Peer Review Congress The page you requested was not found. The JAMA Archives Journals Web site has been redesigned to provide you with improved layout, features, and functionality. The location of the page you requested may have changed. To find the page you requested, click here HOME CURRENT ISSUE PAST ISSUES ... HELP Error 404 - "Not Found"

14. EPEC - Educating Parents Of Extra-special Children - Cerebrotendinous Xanthomato EPEC Educating Parents of Extra-special Children - cerebrotendinous xanthomatosis(CTX). EPEC cerebrotendinous xanthomatosis (CTX). Xanthomas http://www.epeconline.com/CerebrotendinousXanthomatosis.html

Educating Parents of Extra-special Children (EPEC) A resource of information for adults with special needs and parents with special needs children. Cerebrotendinous Xanthomatosis (CTX) 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.

15. Cerebrotendineuze Xanthomatosis ( Cerebrotendinous Xanthomatosis) ( cerebrotendinous xanthomatosis ). CTX. 1. Koopman BJ. cerebrotendinous xanthomatosis(CTX) and other inborn errors of metabolism in bile acid synthesis. http://www.homepages.hetnet.nl/~b1beukema/ctx.html

Cerebrotendineuze xanthomatosis ( Cerebrotendinous xanthomatosis ) CTX Ned Tijdschr Klin Chem 1999; 24: 166-170 Cerebrotendineuze xanthomatosis A. VERRIPS , R.A. WEVERS , L.P.W.J. van den HEUVEL , B.G.M. van ENGELEN A. KEYSER en F.J.M. GABREELS In dit artikel wordt een overzicht gegeven van cerebrotendineuze xanthomatosis (CTX). Tot nu toe zijn er ongeveer 200 patiënten beschreven. In Nederland is de diagnose bij 41 patiënten gesteld. Deze ziekte is in Nederland in de jaren tachtig bestudeerd door de Groningse groep, de resultaten van deze studie zijn beschreven in het proefschrift van Koopman (1). Door onbekendheid met deze ziekte wordt de diagnose CTX nog te weinig gesteld. Naast een kort historisch overzicht worden de klinische verschijnselen van deze ziekte, de pathofysiologie, diagnostiek, aanvullend onderzoek, genetica en therapie besproken. Trefwoorden: Galzuurbiosynthese; sterol 27-hydroxylase Kliniek Cerebrotendineuze xanthomatosis (CTX) is een erfelijke stofwisselingsziekte in de galzuursynthese welke autosomaal recessief wordt overgeërfd. De beginsymptomen treden meestal op in de tweede levensdecade, maar een debuut beneden de leeftijd van tien jaar is ook beschreven (11). Het defect in de galzuursynthese is terug te voeren op een deficiëntie van het mitochondriële enzym sterol 27-hydroxylase (zie figuur 1). Pathofysiologie Vanwege het feit dat CTX patiënten nauwelijks CDCZ synthetiseren, valt de negatieve feedback van de galzuren op de eerste en snelheidsbepalende enzymstap van de galzuurbiosynthese (het 7

16. Nederlandstalige Ziekte-informatie CDG Syndroom. Cerebrotendineuze Xanthomatosis ( cerebrotendinous xanthomatosis) ( CTX ). Ehlers Danlos ( Vereniging van Ehlers Danlos Patiënten ). http://www.homepages.hetnet.nl/~b1beukema/infonl.html

Nederlandstalige informatie Addison en Cushing ( Nederlandse Vereniging voor Addison en Cushing Pati ënten ) Andersen, ziekte van ; ( GSD IV ) Anti-Fosfolipiden Syndroom Barth Syndroom Batten-Spielmeyer-Vogt ( Nederlandse Patiënten Vereniging ) Belgische Oudervereniging van Kinderen met een Stofwisselingsziekte ... Glutaar Acidurie Type II ( Multipele Acyl-CoA Dehydrogenase Deficiëntie ) Hemochromatose Vereniging Nederland Hyperhomocyste ïnemie Hyperlipoprote ... nemie Type I ( Lipoprote ïne Lipase Deficiëntie ) Hypoglycemie I-cell Disease Krabbe; Ziekte van Leigh, ziekte van ... Methylmalonzuur acidemie MORQUIO Vereniging voor belanghebbenden van de ziekte van Morquio ( MPS IV ) Nederlandse Leverpatiënten vereniging Nijmegen Center for Mitochondrial Disorders ( NCMD ) Pelizaeus-Merzbacher Disease ... ( PMD ) PKU Nederlandse Phenylketonurie Vereniging Porfyrie ( acute intermitterende ) Pubmed.nl Research Lab Pediatrics University Hospital Groningen ... S.C.A.D. Short Chain Acyl-CoA Dehydrogenase Deficiëntie Schildklierstichting Nederland Shwachman Diamond Syndroom ( Nederlandstalige website met informatie over dit syndroom ) Smith-Lemli-Opitz Syndroom Stichting de Ontbrekende Schakel ( Tyrosine Hydroxylase Deficiëntie ) Stichting VADA : Gezondheid en Ziekte Vereniging voor Kinderen met Stofwisselingsziekten VSOP Vereniging Samenwerkende Ouder- en Patiëntenorganisaties Vereniging Spierziekten Nederland Vlaamse Vereniging Neuromusculaire Aandoening Wilson; Ziekte van

17. NEJM -- Long-term Treatment Of Cerebrotendinous Xanthomatosis With Chenodeoxycho Original Article from The New England Journal of Medicine Longterm treatmentof cerebrotendinous xanthomatosis with chenodeoxycholic acid. http://content.nejm.org/cgi/content/short/311/26/1649

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Volume 311:1649-1652 December 27, 1984 Number 26 Next Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid VM Berginer, G Salen, and S Shefer Table of Contents Find Similar Articles in the Journal Notify a friend about this article Add to Personal Archive ... Related Articles in Medline Articles in Medline by Author: Berginer, V. M. Shefer, S. Medline Citation Abstract This article has been cited by other articles: Inglese, M., DeStefano, N., Pagani, E., Dotti, M. T., Comi, G., Federico, A., Filippi, M. (2003). Quantification of Brain Damage in Cerebrotendinous Xanthomatosis with Magnetization Transfer MR Imaging. AJNR Am J Neuroradiol [Abstract] [Full Text] Verrips, A., van Engelen, B. G. M., Wevers, R. A., van Geel, B. M., Cruysberg, J. R. M., van den Heuvel, L. P. W. J., Keyser, A., Gabreels, F. J. M. (2000). Presence of Diarrhea and Absence of Tendon Xanthomas in Patients With Cerebrotendinous Xanthomatosis. Arch Neurol [Abstract] [Full Text] Moghadasian, M. H., Salen, G., Frohlich, J. J., Scudamore, C. H. (2002). Cerebrotendinous Xanthomatosis: A Rare Disease With Diverse Manifestations.

18. NEJM -- Long-term Treatment Of Cerebrotendinous Xanthomatosis With Chenodeoxycho 26. Next Next. Longterm treatment of cerebrotendinous xanthomatosiswith chenodeoxycholic acid VM Berginer, G Salen, and S Shefer. http://content.nejm.org/cgi/content/abstract/311/26/1649

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Volume 311:1649-1652 December 27, 1984 Number 26 Next Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid VM Berginer, G Salen, and S Shefer Table of Contents Find Similar Articles in the Journal Notify a friend about this article Add to Personal Archive ... Related Articles in Medline Articles in Medline by Author: Berginer, V. M. Shefer, S. Medline Citation Abstract This article has been cited by other articles: Inglese, M., DeStefano, N., Pagani, E., Dotti, M. T., Comi, G., Federico, A., Filippi, M. (2003). Quantification of Brain Damage in Cerebrotendinous Xanthomatosis with Magnetization Transfer MR Imaging. AJNR Am J Neuroradiol [Abstract] [Full Text] Verrips, A., van Engelen, B. G. M., Wevers, R. A., van Geel, B. M., Cruysberg, J. R. M., van den Heuvel, L. P. W. J., Keyser, A., Gabreels, F. J. M. (2000). Presence of Diarrhea and Absence of Tendon Xanthomas in Patients With Cerebrotendinous Xanthomatosis. Arch Neurol [Abstract] [Full Text] Moghadasian, M. H., Salen, G., Frohlich, J. J., Scudamore, C. H. (2002). Cerebrotendinous Xanthomatosis: A Rare Disease With Diverse Manifestations.

19. Singapore Medical Association cerebrotendinous xanthomatosis in Three Siblings from a Chinese Family KF Ko, KWLee Acute Bowel Ischemia after Coronary Bypass Surgery – A Catastrophic http://www.sma.org.sg/smj/smjmainpges/4201main.html

VOLUME 42 ISSUE JANUARY Journals Present Issue Past Issues SMJ Search SMA News Present Issue Past Issues SMJ Editorial Board Instructions To Authors All articles are in Adobe Acrobat (pdf) format. To download a free Acrobat Reader, CLICK HERE SINGAPORE MEDICAL JOURNAL E D I T O R I A L What Molecular Genetics Holds for the Future? B T Teh O R I G I N A L A R T I C L E S In the Absence of Dietary Surveillance, Chitosan does not Reduce Plasma Lipids or Obesity in Hypercholesterolaemic Obese Asian Subjects S C Ho, E S Tai, P H K Eng, C E Tan, A C K Fok Suicide in Singapore: A Changing Sex Ratio over the Last Decade G Parker, H L Yap

20. Cerebrotendinous Xanthomatosis click For Medical Professionals only. cerebrotendinous xanthomatosis,,Print this article, a rare autosomal recessive disorder http://www.amershamhealth.com/medcyclopaedia/Volume III 1/CEREBROTENDINOUS XANTH

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 Cerebrotendinous xanthomatosis, a rare autosomal recessive disorder characterized by the presence of xanthomas, cataracts, dementia and progressive cerebellar ataxia. In this disorder, crystals of cholesterol accumulate in the white matter of the brain and in xanthomas. The tendinous xanthomas occur most frequently in the Achilles tendon, triceps tendon and extensor tendons of the fingers. Joint hypermobility, osteoporosis, fractures and pes cavus deformity may also be seen in some patients. DR The Encyclopaedia of Medical Imaging Volume III:1 Welcome to Medcyclopaedia. This site is open to a public audience, still we want to know a little more about our visitors. Please tick off the boxes that match your profile.

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