Denis R, Wayenberg J L, Vermeulen M, Gorus F, Gerlo E, Lissens W, Liebaers I, Jauniaux E, Vamos E
Service de Pédiatrie et de Gynécologie, Hôpital Français, Bruxelles, Belgique.
Acta Clin Belg. 1996;51(5):320-7. doi: 10.1080/22953337.1996.11718526.
The authors report a case of unsuspected fetal storage disorder initially diagnosed by placental examination performed because of a transient ascites at 28 weeks of gestation. At birth mild dysmorphic features and gradual neurological deterioration were observed. Highly elevated alkaline phosphatase levels were repeatedly noticed. Deficiency of beta-galactosidase was documented confirming GM1 gangliosidosis. Previous reports described the placental pathology after positive prenatal diagnoses of lysosomal diseases. In the present case, the postnatal diagnosis was made in view of the placental pathologic findings. Our observation indicates the need for thorough investigations in hydrops fetalis, in search for metabolic diseases.
作者报告了一例未被怀疑的胎儿储存障碍病例，该病例最初是在妊娠28周时因短暂腹水进行胎盘检查而诊断出来的。出生时观察到轻度畸形特征和逐渐加重的神经功能恶化。多次发现碱性磷酸酶水平高度升高。记录到β-半乳糖苷酶缺乏，确诊为GM1神经节苷脂贮积症。先前的报告描述了溶酶体疾病产前诊断阳性后的胎盘病理学情况。在本病例中，鉴于胎盘病理结果做出了产后诊断。我们的观察表明，对于胎儿水肿，有必要进行全面检查以寻找代谢性疾病。
