Musumeci S, D'Agata A, Romano C, Patané R, Cutrona D
Department of Pediatrics, University of Catania, Italy.
Am J Med Genet. 1988 Feb;29(2):377-82. doi: 10.1002/ajmg.1320290219.
A boy with a lipid storage disease characterized by lamellar ichthyosis, cataracts, hepatosplenomegaly, and leukocyte vacuoles has been identified in a Sicilian family. This patient shows all the characteristics of ichthyosis and neutral lipid storage disease (Chanarin-Dorfman syndrome). Family data confirm an autosomal recessive inheritance; the heterozygotes may be detected by the presence of vacuoles in circulating eosinophils.
在一个西西里家庭中发现了一名患有脂质贮积病的男孩，其特征为板层状鱼鳞病、白内障、肝脾肿大和白细胞空泡。该患者表现出鱼鳞病和中性脂质贮积病（查纳林 - 多夫曼综合征）的所有特征。家族数据证实为常染色体隐性遗传；杂合子可通过循环嗜酸性粒细胞中存在空泡来检测。
