Free sialic acid storage disorders with fetal hydrops in a neonate
MAO Wei-Ying, HE Yue, ZHANG Lan, HE Qi-Zhi, SUN Lu-Ming, ZHANG Rong
Department of Neonatology, Children's Hospital of Fudan University/National Children's Medical Center, Shanghai 201102, China
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.
Key words :
Free sialic acid storage disorder
Fetal hydrops
SLC17A5 gene
Neonate
Received: 08 March 2023
Corresponding Authors:
Zhang R, Email:zhang_rong@fudan.edu.cn
E-mail: zhang_rong@fudan.edu.cn
Aula P, Autio S, Raivio KO, et al. "Salla disease": a new lysosomal storage disorder[J]. Arch Neurol, 1979, 36(2): 88-94. PMID: 420628. DOI: 10.1001/archneur.1979.00500380058006.
Tondeur M, Libert J, Vamos E, et al. Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings[J]. Eur J Pediatr, 1982, 139(2): 142-147. PMID: 7151835. DOI: 10.1007/BF00441499.
Froissart R, Cheillan D, Bouvier R, et al. Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero[J]. J Med Genet, 2005, 42(11): 829-836. PMID: 15805149. PMCID: PMC1735939. DOI: 10.1136/jmg.2004.029744.
Hasnain A, Burnett S, Agatep R, et al. Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the SLC17A5 gene[J]. Cold Spring Harb Mol Case Stud, 2021, 7(5): a006106. PMID: 34667062. PMCID: PMC8559617. DOI: 10.1101/mcs.a006106.
Miyaji T, Echigo N, Hiasa M, et al. Identification of a vesicular aspartate transporter[J]. Proc Natl Acad Sci U S A, 2008, 105(33): 11720-11724. PMID: 18695252. PMCID: PMC2575331. DOI: 10.1073/pnas.0804015105.
Aula N, Salom?ki P, Timonen R, et al. The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation[J]. Am J Hum Genet, 2000, 67(4): 832-840. PMID: 10947946. PMCID: PMC1287888. DOI: 10.1086/303077.
7 Adams D, Wasserstein M. Free Sialic Acid Storage Disorders[M]//AdamMP, MirzaaGM, PagonRA, alet. GeneReviews?[Internet]. Seattle (WA): University of Washington, Seattle, 1993-2023.
Mochel F, Yang B, Barritault J, et al. Free sialic acid storage disease without sialuria[J]. Ann Neurol, 2009, 65(6): 753-757. PMID: 19557856. PMCID: PMC3508714. DOI: 10.1002/ana.21624.
Chock VY, Milan KE, Folkins AK, et al. Prenatal hydrops foetalis associated with infantile free sialic acid storage disease[J]. J Obstet Gynaecol, 2015, 35(8): 850-852. PMID: 26076308. DOI: 10.3109/01443615.2015.1017558.
Renlund M, Tietze F, Gahl WA. Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease[J]. Science, 1986, 232(4751): 759-762. PMID: 3961501. DOI: 10.1126/science.3961501.
Aula N, Aula P. Prenatal diagnosis of free sialic acid storage disorders (SASD)[J]. Prenat Diagn, 2006, 26(8): 655-658. PMID: 16715535. DOI: 10.1002/pd.1431.
Zielonka M, Garbade SF, K?lker S, et al. A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease—an ultra-orphan multisystemic lysosomal storage disorder[J]. Genet Med, 2019, 21(2): 347-352. PMID: 29875421. DOI: 10.1038/s41436-018-0051-3.
Al-Kouatly HB, Felder L, Makhamreh MM, et al. Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study[J]. Prenat Diagn, 2020, 40(6): 738-745. PMID: 32134517. PMCID: PMC7260084. DOI: 10.1002/pd.5678.
Lemyre E, Russo P, Melan?on SB, et al. Clinical spectrum of infantile free sialic acid storage disease[J]. Am J Med Genet, 1999, 82(5): 385-391. PMID: 10069709.
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