tuberous sclerosis(redirected from Bourneville disease)
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Related to Bourneville disease: Tuberous Sclerosis Complex
an induration or hardening, especially of a part from inflammation, or in disease of the interstitial substance. The term is used chiefly for such a hardening of the nervous system due to hyperplasia of the connective tissue or for hardening of the blood vessels. Called also induration. adj., adj sclerot´ic.
amyotrophic lateral sclerosis see amyotrophic lateral sclerosis.
arteriolar sclerosis arteriolosclerosis.
disseminated sclerosis multiple sclerosis.
familial centrolobar sclerosis a progressive familial form of leukoencephalopathy marked by nystagmus, ataxia, tremor, parkinsonian facies, dysarthria, and mental deterioration.
focal glomerular sclerosis focal segmental glomerulosclerosis.
glomerular sclerosis glomerulosclerosis.
hippocampal sclerosis loss of neurons in the region of the hippocampus, with gliosis; sometimes seen in epilepsy.
lateral sclerosis a form seated in the lateral columns of the spinal cord. It may be primary, with spastic paraplegia, rigidity of the limbs, and increase of the tendon reflexes but no sensory disturbances, or secondary to myelitis, with paraplegia and sensory disturbance.
medial calcific sclerosis (Mönckeberg's sclerosis) Mönckeberg's arteriosclerosis.
multiple sclerosis see multiple sclerosis.
systemic sclerosis systemic scleroderma.
tuberous sclerosis a congenital heredofamilial disease, transmitted as an autosomal dominant trait, characterized principally by the presence of hamartomas of the brain (tubers), retina (phakomas), and viscera, mental retardation, seizures, and adenoma sebaceum, and often associated with other skin lesions.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.
phacomatosis characterized by the formation of multisystemic hamartomas producing seizures, mental retardation, and angiofibromas of the face; the cerebral and retinal lesions are glial nodules; other skin lesions are hypopigmented macules, shagreen patches, and periungual fibromas; autosomal dominant inheritance with variable expression, caused by mutation in either the tuberous sclerosis gene (TSC1) on chromosome 9q or TSC2 on 16p.
Farlex Partner Medical Dictionary © Farlex 2012
tuberous sclerosis type 1An autosomal dominant multi-system disorder (OMIM:191100) characterised by hamartomas and developmental defects, which primarily affects the brain, kidneys, heart and skin.
Range from benign hypopigmented skin macules, to profound mental retardation with intractable seizures and premature death due to disease-associated causes.
Defects of TSC1, which encodes a putative tumour suppressor, cause tuberous sclerosis type 1.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
tuberous sclerosisInternal medicine An AD neurocutaneous syndrome characterized by skin lesions, variable mental retardation and seizures; TS is named after the typical brain lesion–a tuber. See Neurocutaneous disorder.
Tuberous sclerosis –gomez criteria
Facial angiofibroma 1º relative with TS
Fibrous plaque on forehead Hypomelanic macules
Ungual fibroma Shagreen patch
Cortical tuber Infantile spasms
Multiple retinal hamartomas Single retinal hamartoma
Subependymal hamartoma Cardiac rhabdomyoma
Bilateral renal angiomyolipomas or cysts
†One required for diagnosis‡Two required for diagnosis
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
tuberous sclerosisSee BOURNEVILLE'S DISEASE.
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005
A genetic disease that causes skin problems, seizures, and mental retardation. It may be confused with autism.
Mentioned in: Autism
Gale Encyclopedia of Medicine. Copyright 2008 The Gale Group, Inc. All rights reserved.
Bourneville,Désiré-Magloire, French physician, 1840-1909.
Bourneville disease - phacomatosis characterized by the formation of multisystem hamartomas. Synonym(s): Bourneville syndrome; tuberous sclerosis
Bourneville syndrome - Synonym(s): Bourneville disease
Bourneville-Pringle disease - facial lesions with tuberous sclerosis.
Medical Eponyms © Farlex 2012
tu·ber·ous scle·ro·sis(tūbĕr-ŭs skler-ōsis) [MIM*191100]
Phacomatosis characterized by the formation of multisystemic hamartomas producing seizures, mental retardation, and angiofibromas of the face.
Synonym(s): Bourneville disease, epiloia.
Synonym(s): Bourneville disease, epiloia.
Medical Dictionary for the Dental Professions © Farlex 2012