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Prolonged thrombocytopenia in a child with severe neonatal alloimmune reaction and Noonan syndrome

Inês Salva1, Sara Batalha1, Raquel Maia1, Paula Kjöllerström1

1- Department of Pediatric Hematology, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisbon, Portugal

- Platelets. 2015 Nov 24:1-2 (Publicação)

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.

Palavras Chave: thrombocytopenia, alloimmune, dysmorphism, neonatal, Noonan syndrome.