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

Rebecca Carter; Anna-Kaisa Niemi

doi:10.1080/09537104.2021.1981845

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

Platelets. 2022 May 19;33(4):649-651. doi: 10.1080/09537104.2021.1981845. Epub 2021 Dec 14.

Authors

Rebecca Carter¹, Anna-Kaisa Niemi^{1

2}

Affiliations

¹ Division of Neonatology, Department of Pediatrics, University of California San Diego, La Jolla, CA, USA.
² Division of Neonatology, Rady Children's Hospital San Diego, University of California San Diego, San Diego, CA, USA.

PMID: 34904514
DOI: 10.1080/09537104.2021.1981845

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.

Publication types

Case Reports

MeSH terms

Anemia*
Antigens, Human Platelet*
Heterozygote
Humans
Infant, Newborn
Intracranial Hemorrhages / complications
Intracranial Hemorrhages / diagnosis
Noonan Syndrome* / complications
Noonan Syndrome* / diagnosis
Noonan Syndrome* / genetics
Thrombocytopenia, Neonatal Alloimmune* / diagnosis
Thrombocytopenia, Neonatal Alloimmune* / genetics

Substances

Antigens, Human Platelet