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

Brain Dev. 2014 Feb;36(2):171-5. doi: 10.1016/j.braindev.2013.01.012. Epub 2013 Feb 19.

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.

Keywords: Hydrops fetalis; Placental biopsy; Sialidosis.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

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

Supplementary concepts

  • Neuraminidase 1 deficiency