Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8309597 | Clinica Chimica Acta | 2018 | 20 Pages |
Abstract
Nonimmune hydrops fetalis is the most severe clinical manifestation of lysosomal storage diseases (LSDs). Around 14 different LSDs have been accounted for as 1-15% of the cause of nonimmune hydrops fetalis. We report a Korean infant affected by an extremely rare but severe form of sialic acid storage disease. The patient presented with nonimmune hydrops fetalis, dysmorphic facial features, hepatosplenomegaly, and dysostosis multiplex and died at 39â¯days of age due to persistent pulmonary hypertension. LSD was suspected based on the presence of diffuse vacuolation of syncytiotrophoblast, villous stromal cells, and intermediate trophoblast in placental biopsy. Increased excretion of urinary free sialic acid was detected by liquid chromatography-tandem mass spectrometry. The patient was compound heterozygous of the c.908G>A (p.Trp303Ter) and the splicing mutation c.1259+5G>T (IVS9+5 G>T) in the SLC17A5 gene.
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Authors
Eungu Kang, Yoon-Myung Kim, Sun Hee Heo, Euiseok Jung, Ki-Soo Kim, Hyun Ju Yoo, Eun Na Kim, Chong Jai Kim, Gu-Hwan Kim, Beom Hee Lee,