ORPHANET - Rare Diseases - Orphan Drugs ICD E75.5, cerebrotendinous xanthomatosis (CTX) is an inborn error of acidbile synthesis and storage of sterols with onset in early childhood. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=909
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 (
Xanthomatosis adrenoleukodystrophy, PelizaeusMerzbacher disease, Canavan disease, Alexander disease,Zellweger syndrome, Refsum disease, and cerebrotendinous xanthomatosis. http://www.websters-online-dictionary.org/definition/english/xa/xanthomatosis.ht
Extractions: Philip M. Parker, INSEAD. Xanthomatosis Definition: Xanthomatosis . Widespread xanthomas (especially on elbows and knees); often associated with a disorder of lipid metabolism. Source: WordNet 1.7.1 Specialty Definition: Xanthomatosis Domain Definition A condition of morphologic change in which there is accumulation of lipids in the large foam cells of tissues. It is the cutaneous manifestation of lipidosis in which plasma fatty acids and lipoproteins are quantitatively changed. The xanthomatous eruptions have several different distinct morphologies dependent upon the specific form taken by the disease. ( references Source: compiled by the editor from various references ; see credits. Top Synonyms: Xanthomatosis Synonyms: cholesterosis cutis (n), lipid granulomatosis (n), lipoid granulomatosis (n), xanthoma multiplex (n). ( additional references Top Specialty definitions using "xanthomatosis" Diabetes Mellitus, Lipoatrophic Wolman Disease references Top Non-Fiction Usage: Xanthomatosis Subject Topic Quote Specific leukodystrophies include metachromatic leukodystrophy, Krabbe leukodystrophy, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, Alexander disease, Zellweger syndrome, Refsum disease, and cerebrotendinous
GeneCard For CYP27A1 Human Gene Nomenclature database symbol CYP27A1 (cytochrome P450, subfamily XXVIIA(steroid 27hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1). http://www6.unito.it/cgi-bin/cards/carddisp?CYP27A1
Dorlands Medical Dictionary knees, and heels, which occurs in association with certain types of hyperlipoproteinemia,tuberous xanthoma, xanthelasma, and cerebrotendinous xanthomatosis. http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS
Leukodystrophy cerebrotendinous xanthomatosis is a type of Leukodystrophy which isrelated to the chemical cholestanol in the myelin sheath. It http://www.bchealthguide.org/kbase/nord/nord676.htm
Extractions: It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Information on the following diseases can be found in the Related Disorders section of this report: Leukodystrophy is the name given to a group of very rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each of the leukodystrophies will affect one of the chemicals that make up the myelin sheath or white matter of the brain, causing the various types of leukodystrophy. The myelin sheath, which acts as insulation of the nervous system, is composed of different lipids (fatty substances). Thus defects in production and degradation of these lipids can lead to the many ways in which these diseases can manifest themselves.
Erdheim Chester Disease Database.) . cerebrotendinous xanthomatosis (CTX) is an extremely rare,inherited lipid storage disease that is present at birth. It http://www.bchealthguide.org/kbase/nord/nord943.htm
Extractions: It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Information on the following diseases can be found in the Related Disorders section of this report: Erdheim-Chester disease (ECD) is a rare multisystem disorder of adulthood. It is characterized by excessive production and accumulation of histiocytes within multiple tissues and organs. Histiocytes are large phagocytic cells (macrophages) that normally play a role in responding to infection and injury. (A phagocytic cell is any "scavenger cell" that engulfs and destroys invading microorganisms or cellular debris.) In those with ECD, sites of involvement may include the long bones, skin, tissues behind the eyeballs, lungs, brain, pituitary gland, and/or additional tissues and organs. Associated symptoms and findings and disease course depend on the specific location and extent of such involvement. The specific underlying cause of ECD is unknown.
Malaysia Medical Association Malaysian Medical Association. Back . cerebrotendinous xanthomatosis withCholestanolaemia Involvement of Five Individuals in a Malay Family http://www.mma.org.my/info/4_original_90.htm
Extractions: Nor Hayati Othman, MPath, Sabariah Abdul Rahman, MPath, Department of Pathology, School of Medical Sciences, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan Summary Cerebrotendinous xanthomatosis (CTX), a rare inherited lipid storage disease is due to a defect in bile acid metabolism. Involvement of five members of a family is presented. The clinical features, laboratory and pathologic findings are discussed. Tendinous and tuberous xanthomatosis, bilateral cataracts, cerebral impairment and raised serum cholestanol are the salient features. We believe this is the first report of CTX in Malaysia. Key Words : Cerebrotendinous Xanthomatosis, Cholestanolaemia, Involvement of Five Individuals in a Malay Family Zulfiqar Annuar, MMed*, Abdul Samad Sakijan, FRCR*, Norizan Annuar, DCP**, Goon Hong Kooi, FRACS***, *Departments of Radiology, **Pathology and ***Surgery, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur Summary Ultrasound examinations were done to evaluate clinically palpable abdominal masses in 125 children. The examinations were normal in 21 patients. In 15 patients, the clinically palpable masses were actually anterior abdominal wall abscesses or hematomas. Final diagnosis was available in 87 of 89 patients with intraabdominal masses detected on ultrasound. The majority (71%) were retroperitoneal masses where two-thirds were of renal origin. Ultrasound diagnosis was correct in 68 patients (78%). All cases of hydronephrosis were correctly diagnosed based on characteristic ultrasound appearances. Correct diagnoses of all cases of adrenal hematoma, psoas abscess, liver hematoma, liver abscess and one case of liver metastases were achieved with correlation of relevant clinical information.
C Conditions And Diseases Health English Cerebrohepatorenal Syndrome English Health Conditions and Diseases Genetic DisordersZellweger Syndrome ? cerebrotendinous xanthomatosis English Health http://www.interactiva.org/Dir/I/English/Health/Conditions_and_Diseases/C/
Neurology -- Correspondence For , 55 (4) 601 Correspondence to NEUROIMAGES cerebrotendinous xanthomatosis Neurology2000; 55 601 Full text, cerebrotendinous xanthomatosis, 26 June 2001. http://www.neurology.org/cgi/eletters/55/4/601
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Extractions: [McKusic, V.A., 'Mendelian Inheritance in Man', 6th ed.,Johns Hopkins Univ. Press, Baltimore, 1983] The clinical effects of the inborn errors of metabolism vary from lethality in utero or in early postnatal life, to very severe handicap [Tay-Sachs disease, Hurler's syndrome, homozzygous talassemia, Lesch-Nyan syndrome, Duchenne muscular dystrophy, Huntington's disease, etc.], to restricted life expectancy , to harmlessness. For most inborn errors, therapy is virtually nonexistent, at present. 'Of about 120,000 US babies born each year with a birth defect, 8,000 die during their first year of life......birth defects are the fifth-leading cause of years of potential life lost and contribute substantially to childhood morbidity and long-term disability."
CHOLESTYRAMINE cholestyramine. Hydrophilic 7betahydroxy bile acids, lovastatin, and cholestyramineare ineffective in the treatment of cerebrotendinous xanthomatosis. http://mind-brain.com/abstracts.php?qa=cholestyramine
Extractions: One hundred and twenty five cases of clinically diagnosed allergic contact dermatitis were studied. All patients were subjected to patch test with standard test allergens and also with suspected test allergens based on history and clinical profile. Allergic contact dermatitis due to Parthenium hysterophorus was commonest and found in 64% cases, followed by wearing apparel and jewellery in 16.8%, topical medicaments in 8% and cosmetics and occupational contactants in 5.6% cases each. The common individual allergens other than parthenium, were nickel in 8.8%, leather, hair dye and cement in 3.2% each, nitrofurazone and petrol, oil, lubricant (POL) in 2.4% each. Patch test with suspected allergens was positive in 72% of cases. Pradip Kumar Keshri, Ashok Pathak, H K Kar, T R D Sinha
Cerebrotendinous Xanthomatosis Prev Term cerebrospinal fluid shunt Next Term cerebrovascular accident cerebrotendinousxanthomatosis. Broader Terms myelinopathy Broader Terms http://crisp.cit.nih.gov/Thesaurus/00001487.htm
