Severe thrombocytopenia and intracranial hemorrhage in a newborn with Noonan syndrome and neonatal alloimmune thrombocytopenia

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.

Keywords:

• Congenital thrombocytopenia
• NAIT
• Noonan syndrome

Authors contributions

Dr. Carter and Dr. Niemi are responsible for the reported case, participated in the concept, design, analysis, and interpretation of data, and drafting and critical review of the manuscript, approved the final manuscript as submitted, and agree to be accountable for all aspects of the work.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Statement of ethics

Written informed consent for publication of this case report was obtained from the parent/legal guardian as well as for any accompanying images.

Additional information

Funding

The author(s) reported there is no funding associated with the work featured in this article.