Free sialic acid storage disorders with fetal hydrops in a neonate / 中国当代儿科杂志

A boy, aged 3 hours, was admitted due to a prenatal diagnosis of fetal hydrops at 3 hours after resuscitation for birth asphyxia. Prenatal examination at 5 months of gestation showed massive ascites in the fetus, and after birth, the boy had the manifestations of systemic hydroderma, massive ascites, coarse face, and hepatomegaly. Genetic testing revealed heterozygous mutations in the SLC17A5 gene, and there was a significant increase in urinary free sialic acid. Placental pathology showed extensive vacuolization in villous stromal cells, Hofbauer cells, cytotrophoblast cells, and syncytiotrophoblast cells in human placental chorionic villi. The boy was finally diagnosed with free sialic acid storage disorders (FSASDs). This is the first case of FSASDs with the initial symptom of fetal hydrops reported in China. The possibility of FSASDs should be considered for cases with non-immune hydrops fetalis, and examinations such as placental pathology and urinary free sialic acid may help with early diagnosis and clinical decision making.

Changes of Luteinizing Hormone, Follicle-Stimulating Hormone and Testosterone in Umbilical Vein Blood of Neonates with Different Birth Weight and Sexes / 实用儿科临床杂志

Objective To observe changes of luteinizing hormone (LH), follicle-stimulating hormone (FSH) and testosterone (T) in umbilical vein blood between male and female neonates, and assess the effect of serum LH, FSH and T on fetal growth.Methods Umbilical vein blood was obtained from 130 neonates (64 females and 66 males) in the second hospital of changshu city. According to birth weight, 130 neonates were divided into 3 groups: macrosomia (n=28), intrauterine growth restriction (IUGR) (n=31) and normal neonates (n=71). The serum levels of LH, FSH and T were measured by radioimmunoassay.Results 1.The levels of LH, FSH and T in umbilical vein blood were significantly higher in male neonates than those in females (P