Refractory congenital ascites as a manifestation of neonatal sialidosis: Clinical, biochemical and morphological studies in a newborn Syrian male infant

Syrian newborn with coarse facies, hepato-splenomegaly, and refractory asci tes is reported. Examination of the ascitic fluid showed vacuolated lymphoc ytes 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 fi broblasts an increase of the incorporation of [C-14]methylamine pointed to excessive lysosomal storage and the demonstration of an isolated deficiency of alpha-N-acetylneuraminidase (sialidase) led to the diagnosis of a siali dosis. At postmortem examination, foam cells were found mostly in bone marr ow, liver, and brain. To date very few cases of neonatal sialidosis have be en reported, and, to the best of our knowledge, this is the first child wit h neonatal sialidosis from Syria and the first case of neonatal sialidosis studied by the [C-14]methylamine incorporation assay.