吮乳期婴儿的儿童型肾上腺脑白质营养不良

Childhood form of adrenoleukodystrophy in the sucking infant.

作者信息

Kodama S, Nishio H, Yokoyama S, Matsuo T, Yamano T, Shimada M

出版信息

Pediatr Neurosci. 1985;12(4-5):252-6. doi: 10.1159/000120259.

DOI:10.1159/000120259

Abstract

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.

摘要

一名还在吃奶的婴儿在出现临床症状之前就被发现患有儿童期肾上腺脑白质营养不良（ALD）。脐带血血浆中C24:0/C22:0和C26:0/C22:0比值显著升高，因此给予了限制极长链饱和脂肪酸的奶粉。对直肠黏膜活检组织进行的超微结构研究显示，在3个月大时，组织细胞中出现了直线状和/或弯曲的电子透亮裂隙，在其哥哥以及另一名有ALD症状的男孩中也观察到了同样情况。然而，大脑灰质、白质、尾状核、内囊和丘脑的磁共振成像以及T1和T2值均在正常范围内。