61. Virtual Children's Hospital: Paediapaedia: Tuberous Sclerosis Paediapaedia Neurological Diseases tuberous sclerosis. Michael P.D'Alessandro, MD Peer Review Status Internally Peer Reviewed http://www.vh.org/pediatric/provider/radiology/PAP/NeuroDiseases/TS.html

Paediapaedia: Neurological Diseases Tuberous Sclerosis Michael P. D'Alessandro, M.D. Peer Review Status: Internally Peer Reviewed Clinical Presentation: Clinical triad is adenoma sebaceum, seizures, and mental retardation. Etiology/Pathophysiology: A hamartomatous proliferation of fibrous and connective tissue in the brain, skin, skeleton, kidneys, and heart. Pathology: The hamartomatous lesions in the brain consist of proliferating glial tissue and ganglion cells. Imaging Findings: The intracranial tubers are usually calcified and usually are in a periventricular / subependymal location but they can occasionally be found in the brain parenchyma. The tubers may undergo malignant degeneration into giant cell astrocytomas. DDX: Not applicable References: See References Chapter. Section Top Title Page See related Provider Topics Brain and Nervous System Genetics/Birth Defects or Tuberous Sclerosis See related Patient Topics Brain and Nervous System or Genetics/Birth Defects Virtual Children's Hospital Home Virtual Hospital Home Site Map ... UI Health Care Home http://www.vh.org/pediatric/provider/radiology/PAP/NeuroDiseases/TS.html

62. Virtual Hospital: Radiology Resident Case Of The Week: Disease: Tuberous Scleros 28, 1995. Disease tuberous sclerosis Bourneville's Disease. JeffGoree, MD Peer Review Status Internally Peer Reviewed. Clinical http://www.vh.org/pediatric/provider/radiology/PedRadSecTF/072895/

Radiology Resident Case of the Week: July 28, 1995 Disease: Tuberous Sclerosis - Bourneville's Disease Jeff Goree, M.D. Peer Review Status: Internally Peer Reviewed Clinical Sx: The classic triad of adenoma sebaceum (in 60-70% of patients), mental retardation, and seizures is seen in only 1/3 of patients. Other findings include: retinal hamartomas, Shagreen patches, and Ash leaf spots on physical exam. Etiology/Pathophysiology: Although it's an autosomal dominant disease involving the long arm of chromosome 9, tuberous sclerosis most commonly occurs spontaneously (60%). The incidence is about 1/150-100,000 live births. Pathology: This disease is a "shotgun blast." It hits the entire body. The intracranial changes are due to "tubers" 1-2 cm in size that can involve cortex and/or subependyma. Microscopically, they exhibit bizarre architecture with surrounding gliosis and fibrillary background. The cells are enlarged multinuclear astrocytes. The lesions have a tendency to calcify. When there are subependymal and periventricular nodules, "Candle guttering" may be seen (88% calcify) along the lateral ventricles. Cortical and subcortical tubers are most common in the frontal lobes. The subependymal lesions may degenerate to a Giant Cell Astrocytoma (2-15% of patients). This tumor, although usually benign, can grow large and causes symptoms due to its mass effect. They most commonly occur around the Foramen of Monro, and may lead to obstructive hydrocephalus.

63. Women With Disabilities - Tuberous Sclerosis tuberous sclerosis. Individuals with tuberous sclerosis may experiencenone or all of the symptoms with varying degrees of severity. http://www.4woman.gov/wwd/wwd.cfm?page=87

64. Abscess Of The Brain tuberous sclerosis of the Brain From the Virtual Pathology Museum, Department ofPathology, University of Connecticut Health Center. tuberous sclerosis, Brain. http://155.37.5.42/Code/1576.htm

Abscess, Brain Abscess Aspergillus •These dark lesions in the cerebral and cerebellar Hemispheres are recent abcesses due to the fungus Aspergillus which invades blood vessels throughout the body. Older abcesses have a three layer capsule, the first layer being a center full of necrotic neutrophil, macrophages and organisms. The next layer is a collagenous capsule with inflammatory cells and the last layer us a band of astrogliosis with inflammatory cells. These abcesses can cause death by accompanying edema and herniation, breaching of the capsule and spreading cerebritis or rupture into a ventricle with ventriculitis and meningitis. Image Contrib. by: Saint Francis Hospital Description by: Margaret Grunnet, M.D. ( 801-6468) More Information

65. Tuberous Sclerosis tuberous sclerosis Menu. This is a webforum to discuss and comment on TuberousSclerosis. Click here to Enter a new Neurology WebForum article http://neuro-www.mgh.harvard.edu/forum/TuberousSclerosisMenu.html

Tuberous Sclerosis Menu This is a webforum to discuss and comment on Tuberous Sclerosis. Click here to Enter a new Neurology WebForum article... This Web Forum is not moderated in any sense. Anyone on the Internet can post articles or reply to previously posted articles, and they may do so anonymously. Therefore, the opinions and statements made in all articles and replies do not represent the official opinions of MGH and MGH Neurology. Neither is MGH or MGH Neurology responsible for the content of any articles or replies. No messages are screened for content. - Very Important Message! - Please Click Here to Read Current Posts: Oct 10, 1997 to Present Useful Websites can be found and posted here! New MGH Neurology Webforum! (12/30/99) 7:41 PM forum working OK now (12/27/99) 1:15 PM testing of siblings? (12/22/99) 9:07 PM ... Test Posting (10/16/97) 3:16 PM IMPORTANT: If this page seems to be missing recently added documents, click the "Reload Page" button on your Web Browser to update the menu. Return to the main Neurology WebForum Page. These forums are maintained by the Department of Neurology at Massachusetts General Hospital John Lester - Webspinner

66. Tuberous Sclerosis Of The Brain tuberous sclerosis of Brain From the Virtual Pathology Museum, Department ofPathology, University of Connecticut Health Center. tuberous sclerosis. http://radiology.uchc.edu/eAtlas/CNS/672.htm

67. Online Dermatology Image Library Dermatlas Dermatology tuberous sclerosis,shagreen patch,nail dystrophy,macule,macule,hypopigmentation,fibroma,dermatologyimage,collagenoma,ash leaf macule http://dermatlas.med.jhmi.edu/derm/result.cfm?Diagnosis=189

68. The Tuberous Sclerosis (TSC) Project The tuberous sclerosis (TSC) Project. This site also houses the TuberousSclerosis Mutation Database, curated by Mary Pat Reeve. http://expmed.bwh.harvard.edu/projects/tsc.html

Home Research Overview People Recent Alumni ... Useful Links The Tuberous Sclerosis (TSC) Project Genetic approaches to understanding mechanisms, pathophysiology, and provide the foundation for therapeutics Tuberous sclerosis is an autosomal dominant human genetic disease with an incidence at birth of about 1 in 6,000, and in which there is a high rate of sporadic (no family history) cases. In this syndrome benign hamartomas (distinctive tumors) involve multiple organs, particularly the brain, skin, heart, and kidney. Further information on clinical aspects of this disorder, as well as support and counseling assistance for families, may be obtained from the NTSA Web site . Single inactivating mutations in either of the TSC1 (encodes hamartin) or TSC2 (encodes tuberin) genes cause this autosomal dominant syndrome. We have had an interest in the clinical and molecular genetics of this disorder for ten years. Major contributions from our lab have been confirmation of the two hit model of disease pathogenesis, the identification of the TSC1 gene, the demonstration of mosaicism in TSC, and the generation of a TSC2 knock-out mouse. Our current research interests are several.

69. Tuberous Sclerosis -- MGH Molecular Neurogenetics Unit Molecular Neurogenetics Unit. tuberous sclerosis. General Information and Support(The National tuberous sclerosis Association); Cody's Page (Basic Info) http://www.mgh.harvard.edu/depts/diseases/mnu-tsc.htm

Massachusetts General Hospital Molecular Neurogenetics Unit Tuberous Sclerosis General Information and Support (The National Tuberous Sclerosis Association) Cody's Page (Basic Info) Tuberous Sclerosis (TSC) is a genetic disorder that causes benign tumors to form in many different body organs including the brain, skin, heart, kidneys, lungs, and eyes. In any one individual, clinical symptoms will vary depending upon the specific organs affected. While the true prevalence of TSC is not known, it is estimated that TSC occurs in approximately 1 in 10,000 live births. TSC is seen in both sexes and among all racial and ethnic groups. The diagnosis of TSC is made through clinical evaluations of the organ systems involved. A thorough evaluation typically includes careful examinations of the skin, brain, kidneys, heart, and eyes to determine whether any organ involvement has occurred. Additional tests, including ultrasounds, MRI scans, or CT (“cat”) scans may beeeded to confirm a diagnosis. Of the two genes associated with TSC, the TSC2 gene has been located on chromosome 16. Dr. Jonathan Haines is performing mutational analysis of the TSC2 gene and Dr. Vijaya Ramesh has begun characterization of the corresponding protein, tuberin . DNA diagnostic testing for TSC2 mutations is now available for a subset of research families through the clinical laboratory of Dr. Katherine Sims. Dr. Sims also runs the tuberous sclerosis clinic at Massachusetts General Hospital for patients and families affected by this disorder. Dr. Alan Buckler is working on locating the TSC1 gene on chromosome 9 by applying newly developed strategies for physical mapping of human chromosomes and disease gene identification.

70. Tuberous Sclerosis Background. tuberous sclerosis complex (TSC) is an autosomal dominantgenetic disorder characterized by a variety of organ system changes. http://www.thedoctorsdoctor.com/diseases/tuberous_sclerosis.htm

Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by a variety of organ system changes. Its name is derived from the characteristic changes that occur in the brain, called tubers. Over time, these tuberous growths become hard and sclerotic and may calcify. Until recently, most of the proliferations and tumors associated with the disease were thought to be hamartomas. Recent molecular biological analysis has revealed that these are clonal processes and true neoplastic growths. The TSC1 and TSC2 genes behave as tumor suppressor genes. If a somatic mutation of the second allele occurs, abnormal cell growth and differentiation occur. The current diagnostic criteria divide the disease into diagnostic categories based upon the combination of clinical and histological findings. Definite TSC: Either 2 major features or 1 major feature and 2 minor features Possible TSC: Either 1 major feature or 2 or more minor features Major Features Minor Features Facial angiofibromas or forehead plaque Nontraumatic ungual or periungual fibroma Hypomelanotic macules (more than 3) Shagreen patch (connective tissue nevus) Multiple renal nodular hamartomas Cortical tuber* Subependymal nodule Subependymal giant cell astrocytoma Cardiac rhabdomyoma, single or multiple

71. Tuberous Sclerosis And Your Baby Return to Index, Information from Your Family Doctor. tuberous sclerosis and YourBaby. What is tuberous sclerosis? What are the signs of tuberous sclerosis? http://familydoctor.org/handouts/496.html

Information from Your Family Doctor Tuberous Sclerosis and Your Baby What is tuberous sclerosis? Tuberous sclerosis causes growths in the brain, eyes, heart, kidney, skin or lungs. These growths are usually benign (not cancer). The first signs may be seizures and spots on the skin. Some people who have tuberous sclerosis may have learning problems or seizures that are hard to control. Tuberous sclerosis isn't common, but it isn't rare either. Up to 40,000 people in the United States have it. The disorder occurs in both sexes and in people of all races and ethnic groups. How did my child get this disorder? About half of the time, tuberous sclerosis is passed from a parent to a child, or inherited. If one parent has tuberous sclerosis, every child born to that parent has a 50% chance of inheriting it. However, in about half the children who have tuberous sclerosis, the mother and father have no signs of it. It seems that sometimes a normal gene changes (mutates) to the abnormal form that causes tuberous sclerosis. Doctors have no test to identify a person who has the tuberous sclerosis gene if that person has no signs of it.

72. MedWebPlus Subject Diseases And Conditions Hereditary Diseases Web Sites A, , GO, Lisa's tuberous sclerosis Page maintained by Lisa Kiczuk.Version 2.3.0 © 1998-2002 Flexis, Inc. All rights reserved. Privacy statement http://www.medwebplus.com/subject/Diseases_and_Conditions/Hereditary_Diseases/Tu

73. MedWebPlus Subject Periodicals Tuberous Sclerosis MedWebPlus A service of Flexis, Inc. ADVERTISEMENT click here - ADVERTISEMENT- click here - ADVERTISEMENT advertisement ADVERTISEMENT http://www.medwebplus.com/subject/Periodicals/Tuberous_Sclerosis

74. Tuberous Sclerosis tuberous sclerosis. What is it? It is sometimes referred to as tuberoussclerosis complex (TSC), Bourneville's disease, or epiloia. http://www.hmc.psu.edu/healthinfo/t/tuberoussclerosis.htm

75. Tuberous Sclerosis Back Home Next. tuberous sclerosis. tuberous sclerosis Association Supportingsufferers, promoting awareness. The Global tuberous sclerosis Information Link. http://www.ability.org.uk/Tuberous_Sclerosis.html

"see the ability, not the disability" You to can help support the Ability Project by: Our Aims ... Z Tuberous Sclerosis Tuberous Sclerosis Association - "Supporting sufferers, promoting awareness The Global Tuberous Sclerosis Information Link Tuberous Sclerosis - Lisa's Site - An incurable genetic condition that causes tumors to grow in various places in the body. National Tuberous Sclerosis Association (NTSA) Tuberous Sclerosis Association. - Supporting sufferers, promoting awareness, and seeking the causes and best possible management of Tuberous Sclerosis. Cell Biology and Cytoskeleton Group Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

76. PSA From The Tuberous Sclerosis Alliance Public Service Announcement from the tuberous sclerosis Alliance. . 30 SCRIPT.You've probably never heard of a disorder called tuberous sclerosis . http://www.radiospace.com/tsapsa.htm

77. Tuberous Sclerosis tuberous sclerosis (OR HARD POTATOES) tuberous sclerosis (original VOGT TRIAD )FACIAL NEVUS (ADENOMA SEBACEUM); SEIZURES; MENTAL DEFICIENCY. tuberous sclerosis. http://rad.usuhs.mil/rad/handouts/tuberous.html

TUBEROUS SCLEROSIS (OR HARD POTATOES) James G. Smirniotopoulos, M.D. Professor of Radiology and Neurology Chairman, Department of Radiology and Nuclear Medicine Uniformed Services University of the Health Sciences 4301 Jones Bridge Road Bethesda, MD 20814 Voice: 301-295-3145 FAX: 301-295-3893 Email: jsmirnio@usuhs.mil Visit us on the WEB at: http://rad.usuhs.mil The opinions expressed herein are those of the author(s), and are not necessarily representative of the Uniformed Services University of the Health Sciences (USUHS), the Department of Defense (DOD); or the World Health Organization (WHO). Medicine is a constantly changing field, and medical information is subject to frequent correction and revision. Therefore the reader is entirely responsible for verifying the accuracy and relevance of the information contained herein. TUBEROUS SCLEROSIS (original "VOGT TRIAD") FACIAL NEVUS (ADENOMA SEBACEUM) SEIZURES MENTAL DEFICIENCY TUBEROUS SCLEROSIS AUTOSOMAL DOMINANT No Racial/Sexual High Spontaneous Mutation High Penetrance "SPORADIC" over-reported Multiple Genes TUBEROUS SCLEROSIS Definitive (need 1) (1) facial angiofibroma (2) ungual fibroma (3) retinal hamartoma (4) cortical tubers (5) subependymal nodules (6) multiple renal AML TUBEROUS SCLEROSIS Presumptive (need 2) (1) hypomelanotic nodules (2) shagreen patch (3) single renal AML (4) multicystic kidney (5) cardiac rhabdomyoma (6) pulmonary lymphangiomyomatosis

78. Tuberous Sclerosis tuberous sclerosis is a rare genetic, neurological disorder primarily characterizedby seizures, mental retardation, and skin and eye lesions. http://healthlink.mcw.edu/article/921990931.html

Search Articles: search tips Please Take the HealthLink Survey Email this article Print this article Find related articles: By topic: Neurology By keywords: Receive Health Link via email! Subscribe now >> Tuberous Sclerosis Tuberous sclerosis is a rare genetic, neurological disorder primarily characterized by seizures, mental retardation, and skin and eye lesions. In some cases, neurobehavioral problems may also occur. Individuals with tuberous sclerosis may experience none or all of the symptoms with varying degrees of severity. Tuberous sclerosis is a multi-system disease that can affect the brain, kidneys, heart, eyes, lungs, and other organs. Small benign tumors may grow on the face and eyes, as well as in the brain, kidneys, and other organs. Neuroimaging studies may be able to confirm the diagnosis. There is no specific treatment for tuberous sclerosis. Treatment is symptomatic and may include dermabrasion and laser removal techniques for the skin manifestations; drug therapy for neurobehavioral problems; treatment of high blood pressure caused by the kidney problems; anticonvulsant therapy for seizures; and surgery to remove growing tumors. The prognosis for individuals with tuberous sclerosis varies depending on the severity of symptoms. There is no cure.

79. Matthew's Site For Tuberous Sclerosis Awareness A Louisiana Mother posts her personal journals, regarding her son's diagnosis,in an effort to increase awarness on tuberous sclerosis. Welcome to http://www.angelfire.com/la3/tsc/

Welcome to Matthew's Site for Tuberous Sclerosis Awareness Introduction Personal Stories From the Author Community Awareness ... ENTER var site="sm3tuberous" Last Update on March 10, 2003 Go there now This Mommies on the Web's Webring site owned by Matthew's Mom Previous Next RandomSite ... ListSites Want to join the Mommies on the Web's Webring

80. Kprones TuberSclerosID10014 tuberous sclerosis (TSC). Identity. A germline insertion in the tuberous sclerosis(Tsc2) gene gives rise to the Eker rat model of dominantly inherited cancer. http://www.infobiogen.fr/services/chromcancer/Kprones/TuberSclerosID10014.html

Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours ... NA Tuberous Sclerosis (TSC) Identity Other names Bourneville disease Epiloia Inheritance Frequency : 1/6000-1/10000 birth. First genetic cause of epilepsy associated with mental retardation = epiloia. 2/3 of cases are sporadic, 1/3 are inherited. Genetic heterogeneity : two genes, TSC1 and TSC2, account for the majority of cases. Somatic mosaicism has been reported in association with a milder form of the disease. Germinal mosaicism has been described and must be taken into account for genetic counselling. Autosomal dominant with almost complete penetrance but variable expressivity. Clinics Note Disability in TSC patients most often results from the involvement of brain. Two types of lesions are static (hamartias) ; cortical tubers, and subcortical heterotopic nodules, whereas subependymal nodules are often progressive (hamartoma), hence the term subependymal giant cell astrocytoma. Phenotype and clinics The definition of the tuberous sclerosis complex requires either two major features or one major feature plus two minor features.

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