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Severe Shwachman-Diamond syndrome and invasive parvovirus B19 infection
R Miniero1, S Dalponte, A Linari
1Department of Pediatrics, University of Torino, Italy.
Insights
Parvovirus B19 (PVB19) can cause severe health issues in newborns, including bone marrow failure. This case highlights a congenital Shwachman-Diamond syndrome diagnosis complicated by persistent maternal PVB19 infection.
Area of Science:
- Virology
- Hematology
- Genetics
Background:
- Parvovirus B19 (PVB19) is a common human virus known to cause erythema infectiosum and can lead to significant hematological issues like aplastic crises, particularly in vulnerable populations.
- Shwachman-Diamond (S-D) syndrome is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency and neutropenia, often associated with cytopenias such as anemia and thrombocytopenia.
- Congenital bone marrow failure in newborns presents a critical diagnostic challenge, requiring investigation into both genetic and infectious etiologies.
Abstract:
Parvovirus B19 (PVB19) is the causative agent of infectious erythema. In healthy children the virus causes transient erythroid aplasia, whereas in children with chronic hemolytic anemias it can cause severe aplastic crises, and in immunodeficient individuals it can produce chronic red cell aplasia. If contracted during pregnancy, the infection may induce serious damage to the fetus (abortion or hydrops fetalis). Shwachman-Diamond (S-D) syndrome, a rare autosomal recessive condition, consists of exocrine pancreatic insufficiency plus neutropenia; many patients develop either anemia or thrombocytopenia or both. We describe a newborn baby with severe congenital bone marrow failure who was diagnosed with S-D syndrome and persistence of PVB19 virus contracted by the mother in the third trimester of pregnancy.