Schmidt M, Fahnenstich H, Haverkamp F, Platz H, Hansmann M, Bartmann P
, Abt. Neonatologie, Universität Bonn.
Z Geburtshilfe Neonatol. 1997 Sep-Oct;201(5):177-80.
Two cases of non-immunological hydrops fetalis (NIHF) presenting with massive ascites are reported; in both patients an oligosaccharid-pattern in the urine typical for sialidosis resp. galactosialidosis was found. The cerebral sonography of both patients showed streaky echo enhancement in the region of the thalamostriatal vessels, which was interpreted as calcification of the vessels. The courses of the patients were characterised by recurrent infections, hepatosplenomegaly and myoclonus. Relevant literature reports on a large variability in the clinical appearance of oligosaccharidoses. The diagnosis of sialidosis is confirmed in cultured fibroblasts by the deficiency of alpha-N-acetylneuraminidase and, in case of galactosialidosis by the additional lack of beta-galactosidase. The precise diagnosis in NIHF is of increasing interest for prenatal diagnostic as well as for neonatological management.
本文报告了两例以大量腹水为表现的非免疫性胎儿水肿（NIHF）病例；在两名患者的尿液中均发现了典型的唾液酸沉积症或半乳糖唾液酸沉积症的寡糖模式。两名患者的脑部超声检查均显示丘脑纹状体血管区域有条状回声增强，这被解释为血管钙化。患者病程的特点是反复感染、肝脾肿大和肌阵挛。相关文献报道寡糖贮积症的临床表现差异很大。通过培养的成纤维细胞中α-N-乙酰神经氨酸酶的缺乏来确诊唾液酸沉积症，而对于半乳糖唾液酸沉积症，则通过额外缺乏β-半乳糖苷酶来确诊。NIHF的精确诊断对于产前诊断以及新生儿管理越来越重要。
