title: Neonatal Thrombocytopenia: Etiology and Diagnosis.
abstract: Neonatal thrombocytopenia has a broad range of possible etiologies. In this review, an asymptomatic newborn infant was found to have severe thrombocytopenia on laboratory testing for limited sepsis evaluation. The differential diagnosis for thrombocytopenia in the newborn period is discussed, along with recommendations for initial evaluation and follow up of isolated thrombocytopenia in an otherwise well-appearing infant. The clinician should be aware of findings associated with unusual causes of thrombocytopenia that should prompt additional evaluation in the nursery or in the general pediatrician's office. In this illustrative case, a high index of suspicion allowed early diagnosis of Wiskott-Aldrich syndrome and prompt curative therapy by stem cell transplant.
authors.forename: Laura
authors.initials: L
authors.lastname: Sillers
authors.forename: Charles
authors.initials: C
authors.lastname: Van Slambrouck
authors.forename: Gabrielle
authors.initials: G
authors.lastname: Lapping-Carr
mesh_terms: D016824:Antigens, Human Platelet / Q000097:blood; D003937:Diagnosis, Differential; D004797:Enzyme-Linked Immunosorbent Assay; D005865:Gestational Age; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010976:Platelet Count; D017713:Platelet Transfusion; D054098:Thrombocytopenia, Neonatal Alloimmune / Q000097:blood / Q000175:diagnosis* / Q000209:etiology*; D014923:Wiskott-Aldrich Syndrome / Q000175:diagnosis* / Q000628:therapy; D051316:Wiskott-Aldrich Syndrome Protein / Q000235:genetics
chemical_list: D016824:Antigens, Human Platelet; D016756:Immunoglobulins, Intravenous; D051316:Wiskott-Aldrich Syndrome Protein