1/3. Refractory congenital ascites as a manifestation of neonatal sialidosis: clinical, biochemical and morphological studies in a newborn Syrian male infant.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.- - - - - - - - - - ranking = 1keywords = chromatography (Clic here for more details about this article) |
2/3. Severe infantile sialidosis--the characteristics of oligosaccharides isolated from the urine and the abdominal ascites.A female infant presenting congenital ascites, hepatosplenomegaly, coarse face, and delayed mental and physical development is described. oligosaccharides in the urine and the abdominal ascites of this patient were investigated by Bio-Gel column chromatography. The level of urinary oligosaccharides excreted (nmol/mg creatinine) by the patient was 25.8 times the levels of the controls. The oligosaccharides in the urine and the ascites were composed almost entirely of sialyl oligosaccharides. The structures of urinary oligosaccharides were the same as those of oligosaccharides in the ascites. The ratio of high molecular weight sialyl oligosaccharides with repeating structures to low molecular weight sialyl oligosaccharides was higher in the ascites than in the urine.- - - - - - - - - - ranking = 1keywords = chromatography (Clic here for more details about this article) |
3/3. Salla disease--rare or underdiagnosed?Salla disease is described in two English children. Eighty-seven of the 89 cases so far reported come from finland. It may be genuinely rare outside finland or possibly underdiagnosed. Although a lysosomal disorder, it lacks many of their more characteristic features. Deterioration, for example, in the paediatric age range is rare. The clinical features are, however, consistent and specific. Definitive diagnosis is achieved by demonstrating increased amounts of free sialic acid in cultured skin fibroblasts. If the colorimetric method in widespread use is employed for this, a false negative result may be obtained. High-pressure liquid chromatography is sufficiently sensitive. It is possible therefore that Salla disease is under-reported, both from lack of clinical awareness and from lack of appropriate laboratory confirmation.- - - - - - - - - - ranking = 1keywords = chromatography (Clic here for more details about this article) |