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Clin Chim Acta. 2018 Jul;482:199-202. doi: 10.1016/j.cca.2018.04.016. Epub 2018 Apr 11.

Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis.

Author information

1
Department of Pediatrics, Hanyang University Guri Hospital, Hanyang University College of Medicine, Guri, South Korea.
2
Department of Pediatrics, Jeju National University Hospital, Jeju National University School of Medicine, Jeju, South Korea.
3
Asan Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
4
Department of Pediatrics, Asan Medical Center, Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea.
5
Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
6
Medical Genetics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea.
7
Department of Pediatrics, Asan Medical Center, Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea; Medical Genetics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea. Electronic address: bhlee@amc.seoul.kr.

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 39 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.

KEYWORDS:

Lysosomal storage disease; Nonimmne hydrops fetalis; SLC17A5; Sialic acid storage disease

PMID:
29654786
DOI:
10.1016/j.cca.2018.04.016
[Indexed for MEDLINE]

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