Oligosaccharides

Sewell, A. C.

doi:10.1007/978-3-540-76698-8_18

Cited by 9 publications

(1 citation statement)

References 27 publications

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“…3A) . 4 On the 24th day after birth, normal serum enzyme activities excluded GM 2 -gangliosidosis type Tay-Sachs or type Sandhoff, Fabry disease, fucosidosis, a-and (3mannosidosis, Schindler disease, mucopolysaccharidosis type VII, and mucolipidosis II or III.…”

Section: Case Reportmentioning

confidence: 99%

Refractory Congenital Ascites as a Manifestation of Neonatal Sialidosis: Clinical, Biochemical and Morphological Studies in a Newborn Syrian Male Infant

Sergi

Beedgen²,

Kopitz³

et al. 1999

Amer J Perinatol

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A Syrian newborn with coarse facies, hepato-splenomegaly, and refractory ascites is reported. Examination of the ascitic fluid showed vacuolated lymphocytes and thin-layer chromatography of urinary oligosaccharides revealed an abnormal pattern indicative of sialidosis. Despite intensive care, the baby died of respiratory insufficiency 28 days after birth. In cultured skin fibroblasts an increase of the incorporation of [14C]methylamine pointed to excessive lysosomal storage and the demonstration of an isolated deficiency of alpha-N-acetylneuraminidase (sialidase) led to the diagnosis of a sialidosis. At postmortem examination, foam cells were found mostly in bone marrow, liver, and brain. To date very few cases of neonatal sialidosis have been reported, and, to the best of our knowledge, this is the first child with neonatal sialidosis from Syria and the first case of neonatal sialidosis studied by the [14C]methylamine incorporation assay.

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Section: Case Reportmentioning

confidence: 99%