Congenital sialidosis
Ovali, F.; Samanci, N.; Güray, A.; Akdoğan, Z.; Akdeniz, C.; Dağoğlu, T.; Petorak, I.
Turkish Journal of Pediatrics 40(3): 447-451
1998
ISSN/ISBN: 0041-4301 PMID: 9763912 Document Number: 488815
Congenital sialidosis is a rare disease resulting from the absence of neurominidase and presenting with hydrops fetalis, hepatosplenomegaly, dysmorphic features, vacuolated lymphocytes and extensive vacuolation of the connective tissue. Elevated levels of sialooligosaccharides in the urine is characteristic. We describe a newborn baby with congenital sialidosis and discuss the difficulties in reaching the diagnosis.