| 单词 | neonatal adrenoleukodystrophy |
| 释义 | > as lemmasneonatal adrenoleukodystrophy Originally: an inherited (X-linked recessive) disorder characterized by atrophy of the adrenal cortex and degeneration of the white matter of the nervous system, typically appearing in prepubertal boys, and leading to Addisonian symptoms, spastic paralysis, and mental deterioration. Later also (more fully neonatal adrenoleukodystrophy): a similar disorder inherited in an autosomal recessive manner and appearing in infancy.Both forms of adrenoleukodystrophy are associated with an inability to break down very long chain fatty acids, leading to their accumulation in body tissues. ΘΚΠ the world > health and disease > ill health > a disease > congenital or hereditary syndromes > [noun] amyelia1865 amelia1872 congenital myotonia1886 myotonia congenita1887 Thomsen's disease1890 von Recklinghausen's disease1899 pseudoxanthoma1900 Werdnig–Hoffmann1903 myotonia atrophica1908 Fröhlich1909 Milroy's disease1909 Lindau disease1928 Steinert's disease1932 von Hippel–Lindau disease1932 Werner's syndrome1934 Sturge–Weber syndrome1935 gargoylism1936 Morgagni's syndrome1936 Hurler's disease1937 von Willebrand1941 Turner1942 autism1944 hypophosphatasia1948 Klinefelter1950 mucopolysaccharidosis1952 progeria1957 Pendred1960 Down's syndrome1961 Patau's syndrome1961 Marinesco–Sjögren syndrome1962 cri du chat syndrome1964 Prader–Willi syndrome1964 Noonan syndrome1965 Lesch-Nyhan syndrome1966 Wernicke–Korsakoff1966 Down1967 mannosidosis1969 mucolipidosis1970 Asperger's syndrome1971 Angelman syndrome1972 adrenoleukodystrophy1973 SCID1973 severe combined immune deficiency1973 Miller–Dieker syndrome1980 Asperger1988 Asperger's disorder1994 1973 Arch. Pathol. 96 305/2 Sections of autopsy-obtained adrenal gland were available from nine male patients with adreno-leukodystrophy. 1985 Jrnl. Cell Biol. 100 1789/1 Other syndromes such as neonatal adrenoleukodystrophy share many of the clinical, biochemical, and morphological syndromes of CHRS [= cerebrohepatorenal syndrome]. 1993 Newsweek 25 Jan. 48/1 He began falling down and slurring his words,..his vision and hearing began to fail—baffling symptoms that were finally diagnosed as adrenoleukodystrophy, or ALD, a rare, inherited nerve disorder that typically causes death within months or years. 2008 Daily Tel. 2 June 25/2 At the time that the film was made, Lorenzo was 14 and had been suffering for eight years from adrenoleukodystrophy (ALD) a genetic disease affecting mainly boys, which usually results in brain failure and, ultimately, death. < as lemmas |
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