| metachromatic leukodystrophy | <radiology> Dysmyelinating disease, autosomal recessive, aryl sulfatase A -- absent from urine and serum, most present by 2 yrs, die at 3-4 yrs, may arise at any age, CT: decreased density of white matter, primarily in centrum semiovale, with or without focal gall bladder defects (!) (12 Dec 1998) |
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| leukodystrophy, metachromatic | A sphingolipidosis where there is defective desulfation of galactosyl-3-sulfate ceramide due to a defective enzyme cerebroside sulfatase (arylsulfatase a). The result is an accumulation of sulfatide in neural and non-neural tissues which manifests as mental deterioration and severe disturbances of the central nervous system. (12 Dec 1998) |
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| metachromatic | Denoting cells or dyes that exhibit metachromasia. Synonym: metachromophil, metachromophile. (05 Mar 2000) |
| metachromatic bodies | Concentrated deposits consisting primarily of polymetaphosphate and occurring in many bacteria as well as in algae, fungi, and protozoa; m. Body's differ in staining properties from the surrounding protoplasm. See: metachromasia. (05 Mar 2000) |
| metachromatic granules | Granule's that stain a colour different from that of the dye used. See: metachromasia. Term sometimes used as a synonym for volutin. (05 Mar 2000) |
| metachromatic stain | <technique> A stain, such as methylene blue, thionin, or azure A, that has the ability to produce different colours with various histological or cytological structures. (05 Mar 2000) |
| adrenal leukodystrophy | Sudanophilic leukodystrophy with bronzing of skin and adrenal atrophy. A metabolic disorder of young males, characterised by widespread myelin degeneration and associated adrenal insufficiency. The myelin degeneration is massive in various portions of the brain and sometimes the spinal cord, with the accumulation of degradation products of myelin in macrophages: sudanophilic demyelination; atrophy is present in the adrenal glands and testes, and markedly increased amounts of very long-chain fatty acid are present in both the brain and adrenal glands. Symptoms include bronzing of the skin, dysarthria, cortical blindness, bilateral hemiplegia, pseudobulbar paralysis, and progressive dementia. Probably sex-linked recessive inheritance. (05 Mar 2000) |
| globoid cell leukodystrophy | <radiology> Dysmyelinating disease, autosomal recessive, usually presents by 1 yr, specific enzyme deficiency identified, rapid spontaneous nystagmus, poikilothermia Synonym: Krabbe leukodystrophy (12 Dec 1998) |
| leukodystrophy | <radiology> Type of dysmyelinating disease, hereditary, peripheral nervous system unaffected in some disorders Specific diseases: adrenoleukodystrophy, metachromatic leukodystrophy, spongy degeneration (Canavan), globoid cell (Krabbe) leukodystrophy, Alexander disease, Pelizaeus-Merzbacher disease, Cockayne syndrome (12 Dec 1998) |
| leukodystrophy, globoid cell | An inherited metabolic disorder of the nervous system, particularly the white matter. It is characterised histologically by a paucity of myelin and oligodendroglia, severe astrocytic gliosis, and massive infiltration with unique multinucleated globoid cells which are enriched in galactosylceramide. The primary genetic defect is a deficiency of galactosylceramidase. (12 Dec 1998) |
| leukodystrophy with diffuse Rosenthal fibre formation | A metabolic disorder whose onset can be in infancy, adolescence, or adulthood; characterised pathologically by widespread cerebral demyelination with astrocyte and primitive oligodendroglial cell proliferation; refractile Rosenthal fibres result from the degeneration of these proliferating cells; aetiology unknown, but possibly due to a metabolic defect of astrocytes; sex-linked recessive disorder. (05 Mar 2000) |