Gillan J E, Lowden J A, Gaskin K, Cutz E
J Pediatr. 1984 Feb;104(2):225-31. doi: 10.1016/s0022-3476(84)80997-x.
Neonatal ascites is usually attributed to hematologic, genitourinary, gastrointestinal tract, or congenital heart disease. When these lesions have been excluded, metabolic storage disorders should be considered in the differential diagnosis. We report eight cases of neonatal ascites associated with different types of lysosomal storage disease: infantile sialidosis, Salla disease, GM1 gangliosidosis, and Gaucher disease. In each case there was a history of sibling of perinatal death resulting from the disease. In three cases the diagnosis of ascites was made in utero by ultrasound examination. These diseases are characterized by excretion in the fetal urine of abnormal catabolic products or by measurement of decreased activity of specific lysosomal hydrolases in cultured amniocytes. Thin-layer chromatography of the oligosaccharides in amniotic fluid may be indicated when a diagnosis of persistent fetal ascites has been established.
新生儿腹水通常归因于血液系统、泌尿生殖系统、胃肠道或先天性心脏病。当排除这些病变后，鉴别诊断时应考虑代谢性贮积病。我们报告了8例与不同类型溶酶体贮积病相关的新生儿腹水病例：婴儿唾液酸沉积症、萨勒病、GM1神经节苷脂贮积症和戈谢病。每例均有因该病导致围产期死亡的同胞病史。3例在子宫内通过超声检查诊断为腹水。这些疾病的特征是胎儿尿液中排泄异常分解代谢产物，或通过检测培养羊水中特定溶酶体水解酶活性降低来诊断。当确诊为持续性胎儿腹水时，可能需要对羊水寡糖进行薄层色谱分析。
