title: Prolonged thrombocytopenia in a child with severe neonatal alloimmune reaction and Noonan syndrome.
abstract: Fetomaternal alloimmune thrombocytopenia (FMAIT) caused by maternal antibodies is the leading cause of severe neonatal thrombocytopenia. A 1-month-old Caucasian girl was referred to our Hematology Clinic for persistent thrombocytopenia diagnosed after a bleeding episode. Diagnostic tests suggested FMAIT. Mild thrombocytopenia persisted for 18 months, and subsequent findings of dysmorphic facies, short stature and mild pulmonary stenosis led to the hypothesis of Noonan syndrome (NS), which was confirmed by genetic test. Other hematological abnormalities were excluded and she had no further bleeding episodes. This case illustrates the possibility of different diagnoses with the same clinical manifestations. The persistence of thrombocytopenia longer than expected associated with typical physical features led to the diagnosis of NS.
authors.affiliation: a Department of Pediatric Hematology , Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central , Lisbon , Portugal.
authors.forename: Inês
authors.initials: I
authors.lastname: Salva
authors.affiliation: a Department of Pediatric Hematology , Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central , Lisbon , Portugal.
authors.forename: Sara
authors.initials: S
authors.lastname: Batalha
authors.affiliation: a Department of Pediatric Hematology , Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central , Lisbon , Portugal.
authors.forename: Raquel
authors.initials: R
authors.lastname: Maia
authors.affiliation: a Department of Pediatric Hematology , Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central , Lisbon , Portugal.
authors.forename: Paula
authors.initials: P
authors.lastname: Kjollerstrom
mesh_terms: D001323:Autoantibodies / Q000276:immunology; D001792:Blood Platelets / Q000276:immunology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007518:Isoantibodies / Q000276:immunology*; D009634:Noonan Syndrome / Q000150:complications* / Q000276:immunology*; D010976:Platelet Count; D012203:Rh Isoimmunization / Q000276:immunology; D013921:Thrombocytopenia / Q000175:diagnosis* / Q000209:etiology*
chemical_list: D001323:Autoantibodies; D007518:Isoantibodies
keywords: Alloimmune; Noonan syndrome; dysmorphism; neonatal; thrombocytopenia