Canavan disease
(redirected from Asp deficiency)Canavan disease
[kan´ah-van]a rare autosomal recessive form of leukodystrophy, found especially in people of Ashkenazi Jewish descent, although it has also been seen in other ethnic groups. Characteristics include early onset, widespread demyelination and vacuolation of the cerebral white matter that gives it a spongy appearance, severe mental retardation, an enlarged head, atony of neck muscles, spasticity of arms and legs, and blindness. Death may occur as early as 18 months of age; in those who survive, there may be seizures, muscle weakness, stiffness, and feeding problems. Called also spongy degeneration of central nervous system.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.
Can·a·van dis·ease
(kan'ă-van), [MIM*271900]progressive degenerative disease of infancy; mostly affecting Ashkenazi Jewish babies; onset typically within the first 3-4 months of birth; characterized by megalencephaly, optic atrophy, blindness, psychomotor regression, hypotonia, and spasticity; there is increased urinary excretion of N-acetylaspartic acid. MRI shows enlarged brain, decreased attenuation of cerebral and cerebellar white matter, and normal ventricles; pathologically, there are increased brain volume and weight and spongy degeneration in the subcortical white matter. Autosomal recessive inheritance, caused by mutation in the aspartoacyclase A gene (ASPA) on chromosome 17p in Jewish and non-Jewish affected people.
See also: leukodystrophy.
See also: leukodystrophy.
Farlex Partner Medical Dictionary © Farlex 2012
Canavan disease
(kăn′ə-văn′, -vən)n.
An inherited form of leukodystrophy characterized by small, fluid-filled spaces in the brain, giving it a spongelike appearance, and resulting in progressive paralysis, blindness, megalencephaly, and usually death in infancy or childhood.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.
Canavan disease
Spongy degeneration of CNS An early onset AR condition caused by a defect or deficiency of aspartoacylase resulting in accumulation of N-acetylaspartic acid in brain, primarily in Jews Clinical Atonia of neck muscles, hyperextension of legs, flexion of arms, blindness, severe mental retardation, megacephaly, death by 18 months Management Nada; CD is a candidate for gene transfer therapy. See Lorenzo's Oil.McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
Can·a·van dis·ease
(kan'ă-van di-zēz')Progressive degenerative disease of infancy; mostly affecting Ashkenazi Jewish babies; onset typically within the first 3-4 months of birth; characterized by megalencephaly, optic atrophy, blindness, psychomotor regression, hypotonia, and spasticity; increased urinary excretion of N-acetylaspartic acid occurs. MRI shows enlarged brain, decreased attenuation of cerebral and cerebellar white matter, and normal ventricles; pathologically, there is increased brain volume and weight, spongy degeneration, as well as in the subcortical white matter. Autosomal recessive inheritance, caused by mutation in the aspartoacyclase A gene (ASPA) on chromosome 17p in afflicted Jewish and Gentile people.
See also: leukodystrophy
See also: leukodystrophy
Medical Dictionary for the Health Professions and Nursing © Farlex 2012
Canavan,
Myrtelle M., U.S. pathologist, 1879-1953.Canavan disease - autosomal recessive degenerative disease of infancy. Synonym(s): Canavan sclerosis; Canavan-van Bogaert-Bertrand disease; spongy degeneration of infancy
Canavan sclerosis - Synonym(s): Canavan disease
Canavan-van Bogaert-Bertrand disease - Synonym(s): Canavan disease
Medical Eponyms © Farlex 2012