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
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Article info
Publication history
Published online: February 21, 2013
Accepted:
January 27,
2013
Received in revised form:
December 23,
2012
Received:
October 23,
2012
Identification
Copyright
© 2013 The Japanese Society of Child Neurology. Published by Elsevier Inc. All rights reserved.
