Sengers R C, Wevers R A, van Haelst U J, Smeets H L
St. Radboudziekenhuis, Nijmegen.
Tijdschr Kindergeneeskd. 1989 Apr;57(2):70-3.
In a few months old baby a visceromegaly was found, without other clinical abnormalities. Using an artificial substrate a deficiency of sphingomyelinase could not be demonstrated. Histopathological examination of biopsied liver revealed a lipid storage disease. Using the natural substrate the deficiency of sphingomyelinase could be demonstrated in leucocytes and in cultured fibroblasts.
在一个几个月大的婴儿身上发现了内脏肿大，但无其他临床异常。使用人工底物未能证实鞘磷脂酶缺乏。对活检肝脏进行组织病理学检查显示为脂质贮积病。使用天然底物时，可在白细胞和培养的成纤维细胞中证实鞘磷脂酶缺乏。
