Histological, biochemical, and genetic characterization of early-onset fulminating sialidosis type 2 in a Korean neonate with hydrops fetalis.

Abstract

Non-immune hydrops fetalis is the most severe presenting feature of lysosomal storage disorders. However, it is difficult to identify the underlying condition because the different lysosomal storage diseases share many clinical features. A neonate with hydrops fetalis is described here. A lysosomal storage disorder was first suspected when the placental biopsy showed the presence of macrophages containing numerous cytoplasmic vacuoles. Subsequent comprehensive diagnostic processes and biochemical and molecular genetics characterization revealed a rare genetic cause, namely sialidosis type 2. Liquid chromatography-mass spectrometry revealed increased amounts of bound sialic acid in the urine. Pathogenic NEU1 mutations were detected. This is the first case with sialidosis type 2 ever known in the Korean population, exhibiting its most severe manifestation.

• Authors: Beom Hee Lee, Yoo-Mi Kim, Joo Hyun Kim, Gu-Hwan Kim, Byong Sop Lee, Chong Jai Kim, Hyun Ju Yoo, Han-Wook Yoo
• Journal: Brain & development (Brain Dev) Vol. 36 Issue 2 Pg. 171-5 (Feb 2014) ISSN: 1872-7131 [Electronic] Netherlands
• PMID: 23433491 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Topics

• Genetic Predisposition to Disease
• Humans
• Hydrops Fetalis (diagnosis, etiology, genetics, pathology)
• Infant, Newborn
• Lysosomal Storage Diseases (diagnosis, etiology, genetics, pathology)
• Mucolipidoses (complications, genetics)
• Mutation (genetics)
• Republic of Korea