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.
摘要：
努南综合征（NS）是一种遗传性疾病，具有独特的身体特征，通常涉及多器官。据报道，超过一半的NS患者有出血性疾病，包括血小板减少症和血小板功能障碍。新生儿同种免疫性血小板减少症（NAIT）是一种同种异体血小板减少症，可伴有严重出血。这里,我们介绍了一例颅内出血和严重血小板减少症的新生儿,该新生儿在PTPN11中同时存在NAIT和从头杂合致病变异,符合Noonan综合征.
