Childhood form of adrenoleukodystrophy in the sucking infant.
The childhood form of adrenoleukodystrophy (ALD) in a sucking infant was discovered before the appearance of clinical symptoms. C24:0/C22:0 and C26:0/C22:0 ratios in umbilical cord plasma were significantly higher so that very long-chain saturated fatty acid-restricted milk was given. Ultrastructural study on biopsied rectal mucosa revealed rectilinear and/or curved electron-lucent clefts in the histiocytes at 3 months of age, which were also recognized in the elder brother and another boy with symptoms of ALD. However, magnetic resonance imaging and T1 and T2 values were within the normal range in cerebral gray matter, cerebral white matter, caudate nucleus, internal capsule, and thalamus.
D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000097:blood / Q000175:diagnosis / Q000473:pathology; D001921:Brain / Q000473:pathology; D002648:Child; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000097:blood / Q000175:diagnosis / Q000473:pathology; D005227:Fatty Acids / Q000097:blood; D006801:Humans; D007223:Infant; D007413:Intestinal Mucosa / Q000648:ultrastructure; D009682:Magnetic Resonance Spectroscopy; D008297:Male
D005227:Fatty Acids