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J Pediatr Genet 2023; 12(04): 325-328
DOI: 10.1055/s-0041-1731776
Case-Based Review

Infantile Galactosialidosis with Novel Mutation: An Early Presentation

Sonia Sharma
1   Division of Pediatric Nephrology, Department Pediatric, Fortis Hospital, New Delhi, India
,
Shailesh Gupta
2   Division of Neonatology, Department Pediatric, Max Superspeciality Hospital, New Delhi, India
,
A. P. Mehta
2   Division of Neonatology, Department Pediatric, Max Superspeciality Hospital, New Delhi, India
,
Poonam Sidana
1   Division of Pediatric Nephrology, Department Pediatric, Fortis Hospital, New Delhi, India
› Author Affiliations Funding None.
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Abstract

Galactosialidosis (GS) is a rare lysosomal storage disorder. We reported here, the case of a 29-day-old boy who had increased body swelling, difficulty breathing, and petechiae on the trunk since birth. The antenatal history was unremarkable. Clinical laboratory findings included coarse facies, hepatosplenomegaly, gross ascites, thrombocytopenia, nephrotic range proteinuria, and bilateral hydronephrosis. The diagnostic challenge was resolved after genetic testing, which revealed GS with a novel homozygous c.1158dupA mutation.

Keywords

galactosialidosis - anasarca - thrombocytopenia - neonatal ascites - congenital nephrotic syndrome


Publication History

Received: 12 February 2021

Accepted: 22 May 2021

Article published online:
29 July 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
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