BLEEDING DISORDERS IN NOONAN-SYNDROME - 3 CASE-REPORTS AND REVIEW OF THE LITERATURE

Purpose: Noonan syndrome (NS) is a congenital disorder characterized b y various phenotypic features and congenital anomalies. Bleeding disor ders are among the more serious, common, yet poorly defined complicati ons associated with NS. As a means of focusing on these complications, we report three patients with stigmata of NS, each of whom had a comb ination of different hemostatic disorders, and review the literature o n bleeding disorders in NS. Patients and Methods: The clinical course and hemostatic abnormalities in three patients with NS were studied, a nd a literature review on NS was undertaken.Results: The three patient s we report had decreased coagulation factor levels (factors XI and II ), von Willebrand disease, various levels of thrombocytopenia, and abn ormal platelet function. The literature review on NS discloses multipl e types of hemostatic abnormalities and a wide range of clinical prese ntations. A low level of coagulation factor XI is the most frequently described; thrombocytopenia and abnormal platelet function are also co mmon. Conclusions: The existence of various types of bleeding disorder s within one syndrome is unusual and requires further investigation. R ecognition of this common complication in children with NS would aid b oth clinical management and understanding of the spectrum, the frequen cy, and perhaps even the basis of the hematostatic defects in this syn drome. We recommend performing coagulation screening tests in every pa tient with NS.