41. Krabbe's Leukodystrophy For Medical Professionals only. Krabbe's leukodystrophy,, Print this article, Krabbe'sleukodystrophy, Fig. 1 a, b. CT scan without contrast. http://www.amershamhealth.com/medcyclopaedia/Volume VI 1/KRABBES LEUKODYSTROPHY.

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 Krabbe's leukodystrophy, (Knud H. Krabbe, 1885–1961, Danish neurologist), (also known as globoid cell leukodystrophy), lysosomal disorder of myelin metabolism ( lysosomal diseases ), with autosomal recessive inheritance, characterized by a deficiency of galactosylceramidase, also called galactocerebroside beta-galactosidase. Galactocerebroside accumulates in the brain and peripheral nerves. Clinically three different phases are recognized: spasticity and irritability by six months of age; followed by rapid deterioration of motor function, chronic opisthotonus and myoclonic jerking, hyperpyrexia and hypersalivation; and finally decerebration followed by death, which is usually within the first year of life. The abnormalities found on CT and MR are related to the stage of the disease ( Fig.1

42. Leukodystrophy Search Books. Keywords Find it Here. leukodystrophy. leukodystrophy CHORUSdocument on the different types of leukodystrophy. http://www.health-nexus.com/leukodystrophy.htm

Health-Nexus.Net Health-Nexus.Org The #1 Health information site Home ... Up Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Leukodystrophy The Family Village / Library / Leukodystrophy - Types of Leukodystophy: Adrenoleukodystrophy, Alexander Disease, Canavan Disease, Krabbes Disease, Metachromatic Leukodystrophy, and Refsum's Disease. United Leukodystrophy Foundation - UNITED LEUKODYSTROPHY FOUNDATION 2304 Highland Drive * Sycamore, Illinois USA 60178 * Phone: (800) 728-5483 * FAX: (815) 895-2432 The United Leukodystrophy Foundation (ULF), incorporated in 1982, is a nonprofit, voluntary health organization. Leukodystrophy - CHORUS document on the different types of Leukodystrophy.

43. Leukodystrophy leukodystrophy information, links to national and international support groups,clinics with genetic counselors and geneticists. leukodystrophy. http://www.kumc.edu/gec/support/leukodys.html

Leukodystrophy Adrenoleukodystrophy (ALD) Alexanders Disease Canavan Disease (Spongy Degeneration) Cerebrotendinous Xanthomatosis (CTX) Globoid Cell (Krabbes) Leukodystrophy Metachromatic Leukodystrophy (MLD) Neonatal ALD Ovarioleukodystrophy Pelizaeus-Merzbacher Disease Refsum Disease van der Knaap Syndrome Zellweger Syndrome United Leukodystrophy Foundation 2304 Highland Dr., Sycamore, IL 60178 Phone: 800.728.5483 Fax: 815.895.2432 Web Site: www.ulf.org E-mail: ulf@ceet.niu.edu Index of conditions (listed above), Information in Spanish, French, German Adrenoleukodystrophy fact sheet, Sept 1997, National Institutes of Health, Bethesda, MD Pelizaeus-Merzbacher Support Group 209-211 City Road, London EC1V 1JN Phone: 020 7608 8700 Fax: 020 7608 8701 Minicom 020 7608 8702 Helpline 0808 808 3555 Freephone for parents and families (10am-4pm, Mon-Fri) E-mail: info@cafamily.org.uk Web Site: www.cafamily.org.uk/Direct/p15.html Pelizaeus-Merzbacher Disease Support Group Indianapolis, Indiana, E-mail: daviau1@juno.co Newsletter, Annual PMD Family Conference PMD Foundation , (Pelizaeus-Merzbacher Disease), 333 Homestead Avenue, Haddonfield, NJ 08033 Phone: 856.795.1539

44. Leukodystrophy leukodystrophy. PelizaeusMerzbacher Disease leukodystrophy (PMD) is a generallynonprogressive, X-linked disorder of the central nervous system (CNS). http://www.the-morgan-project.org/leukodystrophy.htm

The M .O.R.G.A.N. Project, Inc. est. 2001 M aking O pportunities R eality G ranting A ssistance N ationwide caring FOR them ... learning FROM them Home Welcome! About Us Our Mission ... Links Leukodystrophy WHAT IS LEUKODYSTROPHY? Leukodystrophy is the name given to a group of inherited, progressive genetic disorders. The name comes from the Greek 'leuko', meaning "white" and 'dystrophy' meaning "imperfect growth or development". The nerves in the human body are composed of two parts; the innermost section is called the axon, and is directly responsible for conveying nerve impulses from the brain. Surrounding the axon, rather like insulation around an electrical cord, is the myelin sheath, or 'white matter'. The sheath is made up of a variety of chemicals, and its protective covering is vital to the health and function of the nerve axon within. In Leukodystrophy, a mutation in one of the patient's genes affects the development of one of the multiple chemicals (there are at least 10) that make up the myelin sheath, preventing or inhibiting its development. Without this natural protection the nerve axons are unable to function correctly. Each form of Leukodystrophy affects a different element of the myelin sheath, causing a range of symptoms and affecting different parts of the nervous system, such as the spinal cord and the brain.

45. Adreno-leukodystrophy Home. Health Wellness Information. Adult Metabolic Diseases. Find Out About aSpecific Disease. Adrenoleukodystrophy. Cystinuria. Galactosemia. Gaucher Disease. http://www.vanhosp.bc.ca/html/wellness_amdc_findout_adrenoleukodystrophy.html

Home Adult Metabolic Diseases Find Out About a Specific Disease Adreno-leukodystrophy Cystinuria Galactosemia Gaucher Disease Glycogen Storage Disease ... Urea Cycle Defects Adrenoleukodystrophy This area will soon contain updated information. Please see the resources section for other sites of interest. About VHHSC Reaching Out Patient Info Health Professionals ... Employment Info

46. Leukodystrophy Chatroom Click HERE to log on. http://neuro-mancer.mgh.harvard.edu/echat42/Leukodystrophy/

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47. Globoid Cell Leukodystrophy related terms Krabbe's disease, galactocerebrosidosis. What is globoidcell leukodystrophy? How is globoid cell leukodystrophy inherited? http://www.upei.ca/~cidd/Diseases/nervous system disorders/globoid cell leukodys

related terms: Krabbe's disease, galactocerebrosidosis What is globoid cell leukodystrophy? This is a storage disease, one of a relatively rare group of disorders in which there is a deficiency of a particular enzyme necessary for normal metabolic processes within the body. The result is an accumulation in cells ("storage") of whatever product the enzyme normally acts upon. Typically, animals with a storage disease are normal at birth, fail to grow as rapidly as littermates, and at a consistent age, develop progressive signs of a disorder of the nervous system which will ultimately be fatal. In globoid cell leukodystrophy (GCL), the lack of the enzyme ß-galactocerebrosidase results in an accumulation of galactocerebroside, a component of myelin. This disrupts the cells that normally produce myelin, a fatty substance that coats nerve cells, serves as an electrical insulator and is crucial to the normal conduction of nerve impulses. The progressive loss of myelin in the white matter tracts of the nervous system (brain, spinal cord and/or peripheral nerves) causes a variety of clinical signs such as lack of coordination, tremors, and weakness. Krabbe's disease is a similar condition in people.

48. HealthlinkUSA Leukodystrophy Links Try it, you'll love it! AhHa. Click here for page 1 of leukodystrophyinformation from the HealthlinkUSA directory. Save on Drugs Here. http://www.healthlinkusa.com/185ent.htm

49. HealthlinkUSA Leukodystrophy Links packages. AhHa. Click here for page 1 of leukodystrophy informationfrom the HealthlinkUSA directory. Save on Drugs Here. Accutane; http://www.healthlinkusa.com/185.asp

50. Advanced Respiratory - Airway Clearance Indications Of Leukodystrophy physicians. •, Reimbursed by more than 1,100 health plans nationwide.Airway Clearance Indications of leukodystrophy, Print Version. The http://www.thevest.com/conditions/factsheets/leuko.asp?gs=patients

51. Westie Health Concerns - Globoid Cell Leukodystrophy (GCL) Globoid Cell leukodystrophy(synonym Krabbe's disease) is a degenerative disease......Globoid Cell leukodystrophy (GCL). http://www.westieclubamerica.com/health/gcl.html

Globoid Cell Leukodystrophy (GCL) Description: Globoid Cell Leukodystrophy (synonym: Krabbe's disease) is a degenerative disease of the white matter of the brain and spinal cord. Segmental degeneration of some peripheral nerves may also occur. It is the result of a genetic deficiency of an enzyme (galactocerebroside b-galactosidase) that is involved in the breakdown of certain lipids (fats) in the brain and spinal cord. Clinical signs begin early in life and progress rapidly. Lack of coordination, weakness, stumbling, loss of control of the hindquarters, and tail tremors may be observed. Then the dog will develop a wide stance, incoordination, and posterior or total limb paralysis. The dog may become blind or fail to recognize familiar individuals. The response to painful stimuli is generally unaffected. Age of Onset: The disease may occur as early as 4 weeks of age and nearly always before 5 - 6 months of age. Diagnosis: The typical clinical signs along with characteristic histopathologic findings at autopsy in appropriate breeds are diagnostic. In addition, antemortem (before death) diagnosis can be made by measuring the mean galactocerebroside b-galactosidase enzyme activity in white blood cells. Furthermore, heterozygotes can be identified, since affected dogs have about 18% and carriers about 51% of the mean activity found in the cells of normal dogs. Treatment: There is no treatment, and the disease is invariably fatal.

52. Short Description Of Cell Lines. Pathology Metachromatic Version 4.200205, Short description of cell lines. Pathology metachromaticleukodystrophy, lateinfantile *250100 OMIM record. - By http://www.biotech.ist.unige.it/cldb/pat131.html

53. Short Description Of Cell Lines. Pathology Metachromatic Version 4.200205, Short description of cell lines. Pathology metachromaticleukodystrophy 249900 OMIM record. By selecting the http://www.biotech.ist.unige.it/cldb/pat214.html

54. Metachromatic Leukodystrophy Of The Brain Metachromatic leukodystrophy of the Brain From the Virtual Pathology Museum,Department of Pathology, University of Connecticut Health Center. http://radiology.uchc.edu/Code/1625.htm

Metachromatic Leukodystrophy, Brain Metachromatic Leukodystrophy (low power) •A low power view of white matter in MLD showing the collections of granular myelin debris and macrophages. •MLD is most commanly seen in children who progress normally to a certain age than regress to coma and death. •Adult forms are also seen. Image Contrib. by:Margaret Grunnet, M.D. UCHC Description by: Margaret Grunnet, M.D. ( 1724-5529) More Information

55. Metachromatic Leukodystrophy Of The Brain Metachromatic leukodystrophy of Brain From the Virtual Pathology Museum,Department of Pathology, University of Connecticut Health Center. http://radiology.uchc.edu/eAtlas/CNS/1723.htm

56. Health Library: All Topics: L: Leukodystrophy - Healthfinder® An Introduction to leukodystrophy Brief introductions to the leukodystrophiesare outline on this page. United leukodystrophy Foundation. http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=492

57. V. Leukodystrophy-like Changes Slide Vol. 1, Article 4, Palasis, et al. V. leukodystrophylike Changes A leukodystrophyor demyelinating disorder can have a similar appearance. A. B. A. B. http://foundation.asnr.org/neurographics/Palasis/7.asp

Vol. 1, Article 4 Palasis, et al. V. Leukodystrophy-like Changes Fig 8. 4 yr old girl with hearing loss and lactic aciduria. A, Axial IR and, B, axial T2 FSE images reveal abnormal signal within the white matter of the occipital horns. No significant white matter volume loss is present. A leukodystrophy or demyelinating disorder can have a similar appearance. A. B. A. B. Fig 9. 5 yr old girl with bilateral hearing loss, growth delay, and lactic aciduria. A. Sagittal T1 weighted and B, axial FLAIR images demonstrate abnormal confluent periventricular white matter signal. Small areas of cystic change within the abnormal white matter can also be seen. This appearance is suggestive of a leukodystrophy, but can be seen with mitochondrial disorders as well. A. B. Fig 10. 12 yr old girl with decreased muscle mass, poor growth and retinitis pigmentosa. A, Axial FLAIR sequence shows abnormal signal involving cerebellar and perirolandic white matter. B. Axial T2 FSE demonstrates perirolandic white matter signal abnormality (arrow). No basal ganglia lesions were present. The patient was diagnosed with possible Kearns-Sayre syndrome. It should be kept in mind that there is considerable overlap between the appearance of various mitochondrial OXPHOS disorders. A.

58. MedFriendly.com: Metachromatic Leukodystrophy provides an easy to understand definition for the medical term, metachromaticleukodystrophy. Metachromatic leukodystrophy WHAT IS IT? http://www.medfriendly.com/metachromaticleukodystrophy.html

A B C D ... Z Metachromatic leukodystrophy WHAT IS IT? Metachromatic leukodystrophy is a disorder in which myelin (a fatty nerve covering that sends impulses quickly) is lost because chromosome 22 (one of 46 structures that transmits genetic information) is missing a part (an enzyme called arylsulfatase) that changes a major component of myelin. Myelin is widely destroyed in the cerebrum, (the top section of the brain), cerebellum (a part in the back lower area of the brain important for movement), spine, and the peripheral nerves (nerves outside of the brain and spine). In addition to myelin loss, this condition causes a buildup of metachromatic lipids (fatty substances that changed colors) in the white matter (white looking substance) of the central and peripheral nervous systems. The technical name for the type of metachromatic lipids that build up in this condition is called galactosyl sulfatidates. Metachromatic leukodystrophy is a metabolic disorder. A metabolic disorder is one in which the ability to regulate certain bodily functions related to the distribution of nutrients throughout the body is impaired. WHO USUALLY GETS METACHROMATIC LEUKODYSTROPHY?

59. Florida State University College Of Medicine Digital Library Metachromatic leukodystrophy Patient/Family Resources. Metachromatic leukodystrophyAccess document. United leukodystrophy FoundationAccess document http://fsumed-dl.slis.ua.edu/patientinfo/metabolism/inborn/lysosomalstorage/sphi

Patient/Family Resources by Topic: Metabolic Disorders Metachromatic Leukodystrophy Patient/Family Resources Spanish Miscellaneous See also: Genetic Testing Patient/Family Resources General Genetic Disorders Patient/Family Resources General Metabolic Disorders Patient/Family Resources Metachromatic Leukodystrophy Clinical Resources National Institute of Neurological Disorders and Stroke: Homepage Disorders Information: List of documents Metachromatic Leukodystrophy: Access document United Leukodystrophy Foundation Access document Metachromatic Leukodystrophy: Access document MEDLINE plus Medical Encyclopedia: Table of contents Metachromatic Leukodystrophy: English Spanish Spanish MEDLINE plus Medical Encyclopedia: Table of contents Metachromatic Leukodystrophy: English Spanish Miscellaneous Metachromatic Leukodystrophy Patient/Family Resources The Family Village Library - Specific Diagnoses Card Catalog Table of contents Leukodystrophy: Access document Healthfinder (US DHHS): Homepage Genetics: List of documents National Library of Medicine MEDLINE plus Health Topics: Index Genetic Testing/Counseling: List of documents Genetic Disorders: List of documents YAHOO - Health:Diseases and Conditions:Metabolic Diseases Additional Metabolic Diseases resources ( These sites have not been reviewed.

60. Florida State University College Of Medicine Digital Library Metachromatic leukodystrophy Clinical Resources. Pediatric Database (PEDBASE)List of documents Metachromatic leukodystrophy Access document. http://fsumed-dl.slis.ua.edu/clinical/metabolism/inborn/lysosomalstorage/sphingo

Clinical Resources by Topic: Metabolic Disorders Metachromatic Leukodystrophy Clinical Resources Pediatrics Radiology Pathology Genetics ... Miscellaneous Resources See also: Genetic Testing Clinical Resources General Genetic Disorders Clinical Resources General Metabolic Disorders Clinical Resources Metachromatic Leukodystrophy Patient/Family Resources Harrison's Principles of Internal Medicine 15th Ed.-2001: Table of contents Medical Library subscription INFO Chapter 349: Lysosomal Storage Diseases: Table of contents General Features: Access document Physiology of Lysosomes: Access document Pathogenesis of Lysosomal Storage Diseases: Access document Specific Disorders: Access document The Leukodystrophies: Access document Hoffman: Hematology: Basic Principles and Practice 3rd Ed.-2000 (MD Consult): Table of contents Medical Library subscription INFO Chapter 44 - Lysosomal Storage Diseases: Perspective and Principles: Access document The Concept of the Lysosome: Access document Physiology of Lysosomes: Access document Pathophysiology of Lysosomal Storage Diseases: Access document Molecular Genetic Mechanisms of Lysosomal Storage Diseases: Access document Genotype/Phenotype Correlations: Access document Therapeutic Approaches and Implications: Access document Results and Lessons from Therapy: Access document Diagnosis of Lysosomal Storage Diseases: Access document Goetz: Textbook of Clinical Neurology 1st Ed.-1999 (MD Consult):

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