| 释义 |
DictionarySeediseaseCanavan disease
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.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. Synonym(s): Canavan sclerosis, Canavan-van Bogaert-Bertrand disease, spongy degeneration of infancyCanavan 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.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. 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: leukodystrophyCanavan, 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 infancyCanavan sclerosis - Synonym(s): Canavan diseaseCanavan-van Bogaert-Bertrand disease - Synonym(s): Canavan disease |