Tasso M J, Martinez-Gutierrez A, Carrascosa C, Vazquez S, Tebar R
Pediatrics Department, General Hospital, Albacete, Spain.
J Perinat Med. 1996;24(5):445-9. doi: 10.1515/jpme.1996.24.5.445.
We report a new case of GM1-gangliosidosis diagnosed in a 5 months old baby who was admitted at birth to our Neonatology Unit because of congenital ascites. The antenatal diagnostic techniques, including ultrasound, maternal antibody screen and fetoscopy with fetal karyotyping, as well as postnatal exhaustive study, failed to determine the underlying cause. Because of progressive neurologic deterioration a lysosomal storage disease was suspected and confirmed by skin biopsy. We wish to add a new case of a lysosomal storage disease to the growing list of nonimmune hydrops fetalis etiologies, and to highlight the importance of enzymatic studies in chorionic villous sample or amniotic cultured cells, once the most common conditions associated with fetal ascitis have been ruled out.
我们报告了一例新诊断的GM1神经节苷脂贮积症病例，患儿为5个月大婴儿，因先天性腹水于出生时入住我们的新生儿科。包括超声、母体抗体筛查和胎儿染色体核型分析的胎儿镜检查等产前诊断技术，以及产后详尽研究，均未能确定潜在病因。由于进行性神经功能恶化，怀疑为溶酶体贮积症，并经皮肤活检确诊。我们希望在非免疫性胎儿水肿病因的不断增加的列表中增加一例溶酶体贮积症病例，并强调一旦排除与胎儿腹水相关的最常见情况，对绒毛膜绒毛样本或羊水培养细胞进行酶学研究的重要性。
