Neuraminidase deficiency presenting as non-immune hydrops fetalis

A newborn infant with oedema, ascites and hepatosplenomegaly is described. In ascites fluid foamy macrophages were found, in a liver biopsy cytoplasmic inclusions and membrane-bound vacuoles were seen. Furthermore the child excreted excessive amounts of sialic acid-rich oligosaccharides in the urine...

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Bibliographic Details
Published in:European journal of pediatrics 1984-12, Vol.143 (2), p.135-139
Main Authors: BECK, M, BENDER, S. W, REITER, H.-L, OTTO, W, BÄSSLER, R, DANCYGIER, H, GEHLER, J
Format: Article
Language:English
Subjects:
alpha-L-Fucosidase - analysis
alpha-Mannosidase
beta-Galactosidase - analysis
beta-N-Acetylhexosaminidases
Biological and medical sciences
Edema - etiology
Errors of metabolism
Female
Fibroblasts - enzymology
Hexosaminidases - analysis
Humans
Infant, Newborn
Leukocytes - enzymology
Lipids (lysosomal enzyme disorders, storage diseases)
Liver - pathology
Lysosomes - enzymology
Mannosidases - analysis
Medical sciences
Metabolic diseases
Mucolipidoses - diagnosis
Mucolipidoses - pathology
Neuraminidase - analysis
Neuraminidase - deficiency
Oligosaccharides - urine
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Summary:A newborn infant with oedema, ascites and hepatosplenomegaly is described. In ascites fluid foamy macrophages were found, in a liver biopsy cytoplasmic inclusions and membrane-bound vacuoles were seen. Furthermore the child excreted excessive amounts of sialic acid-rich oligosaccharides in the urine, and therefore a neurovisceral degenerative disorder was assumed. The diagnosis of sialidosis was confirmed by enzymatic assay in cultured fibroblasts, in which a complete deficiency of the lysosomal enzyme neuraminidase could be demonstrated. After recurrent septicaemias the child became dystrophic and died at the age of 6 months. Our case is compared with sialidosis observed by other authors, the wide phenotypic diversity within this biochemical defect is emphasised. The occurrence of hydrops fetalis in lysosomal storage diseases is discussed.
ISSN:0340-6199
1432-1076
DOI:10.1007/BF00445802