학술논문
Severe thrombocytopenia and intracranial hemorrhage in a newborn with Noonan syndrome and neonatal alloimmune thrombocytopenia.
Document Type
Case Study
Author
Source
Subject
*NOONAN syndrome
*INTRACRANIAL hemorrhage
*BLOOD platelet disorders
*THROMBOCYTOPENIA
*GENETIC disorders
*NEWBORN infants
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Language
ISSN
0953-7104
Abstract
Noonan syndrome (NS) is a genetic disorder with distinctive physical features and often multiple organ involvement. Bleeding disorders are reported in over half of patients with NS, including thrombocytopenia and platelet dysfunction. Neonatal alloimmune thrombocytopenia (NAIT) is an alloantigenic thrombocytopenia that can present with severe bleeding. Here, we present a case of intracranial hemorrhage and severe thrombocytopenia in a neonate found to have both NAIT and a de novo heterozygous pathogenic variant in PTPN11, consistent with Noonan syndrome. [ABSTRACT FROM AUTHOR]