J Pediatr Hematol Oncol. 2025 May 26. doi: 10.1097/MPH.0000000000003053. Online ahead of print.
ABSTRACT
Hereditary thrombotic thrombocytopenic purpura (hTTP) is a rare genetic disorder caused by mutations in the ADAMTS13 (a disintegrin-like and metalloprotease with thrombospondin type 1 motif, member 13) gene, leading to deficient or absent ADAMTS13 activity. Without ADAMTS13, ultralarge von Willebrand factor (ULVWF) molecules are not properly cleaved, resulting in the formation of platelet-rich thrombi, platelet consumption, organ ischemia, and microangiopathic hemolytic anemia. We report a female newborn who presented with respiratory distress, jaundice, anemia, and thrombocytopenia. Prenatal ultrasonography revealed a large placental lake. She was diagnosed with hTTP and successfully treated with fresh frozen plasma (FFP) transfusion. Genetic analysis revealed a pathogenic homozygous mutation in the ADAMTS13 gene. To our knowledge, this report is the first to document large placental lakes in a newborn with hTTP, suggesting a potential link between fetal ADAMTS13 deficiency and abnormal placentation.
PMID:40424567 | DOI:10.1097/MPH.0000000000003053
