Free sialic acid storage disorders with fetal hydrops in a neonate.
10.7499/j.issn.1008-8830.2303041
- Author:
Wei-Ying MAO
1
;
Yue HE
1
;
Lan ZHANG
1
;
Qi-Zhi HE
;
Lu-Ming SUN
;
Rong ZHANG
1
Author Information
1. Department of Neonatology, Children's Hospital of Fudan University/National Children's Medical Center, Shanghai 201102, China.
- Publication Type:Journal Article
- Keywords:
Fetal hydrops;
Free sialic acid storage disorder;
Neonate;
SLC17A5 gene
- MeSH:
Infant, Newborn;
Male;
Humans;
Female;
Pregnancy;
Hydrops Fetalis/genetics*;
N-Acetylneuraminic Acid;
Placenta/pathology*;
Ascites
- From:
Chinese Journal of Contemporary Pediatrics
2023;25(5):546-550
- CountryChina
- Language:Chinese
-
Abstract:
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.
