title: 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: Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.
authors: Beom Hee
authors: BH
authors: Lee
authors: Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.
authors: Yoo-Mi
authors: YM
authors: Kim
authors: Genome Research Center for Birth Defects and Genetic Disorders, Asan Medical center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
authors: Joo Hyun
authors: JH
authors: Kim
authors: Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.
authors: Gu-Hwan
authors: GH
authors: Kim
authors: Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.
authors: Byong Sop
authors: BS
authors: Lee
authors: Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
authors: Chong Jai
authors: CJ
authors: Kim
authors: Biomedical Research Center, Asan Institute of Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
authors: Hyun Ju
authors: HJ
authors: Yoo
authors: Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea. Electronic address: hwyoo@amc.seoul.kr.
authors: Han-Wook
authors: HW
authors: Yoo
mesh_terms: D020022:Genetic Predisposition to Disease; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis / Q000209:etiology / Q000235:genetics* / Q000473:pathology*; D007231:Infant, Newborn; D016464:Lysosomal Storage Diseases / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics / Q000473:pathology; D009081:Mucolipidoses / Q000150:complications / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D056910:Republic of Korea
keywords: Hydrops fetalis; Placental biopsy; Sialidosis