Last update:
15-Jul-2010

A 17 year-old girl was admitted via the emergency department with severe anemia and thrombocytopenia. She was complaining of headache, nausea and fatigue, and had a fever of <37.6 °C. Her medical history revealed Noonan syndrome, and during hospitalization systemic lupus erythematosus (SLE) was also diagnosed. Physical examination and laboratory tests led to the diagnosis of thrombotic thrombocytopenic purpura (TTP). The patient was immediately treated with high dose prednisone and red blood cell (RBC) and fresh frozen plasma (FFP) infusions, and remission was achieved 16 days later. Total plasma exchange was not performed because of the extremely small somatotype of the patient and the intracranial bleeding that was detected on the brain MRI. No other cases with concurrence of Noonan and TTP syndromes have been reported in the bibliography worldwide. In this case, the recently-diagnosed SLE was considered to be directly connected and not just coexistent with both TTP and Noonan syndromes. Noonan syndrome is a congenital disorder with multiorgan malformation and dysfunction. Half of the patients present mutations of the PTPN11 gene. The syndrome of TTP is also a multiple disorder, the pathogenesis of which is based on the quantitative and/or qualitative deficiency of ADAMTS 13. The diagnostic criteria of TTP are: microangiopathic hemolytic anemia, thrombocytopenia, neurological symptoms, renal involvement and fever. Basic laboratory findings are the presence of schistocytes in the peripheral blood smear, low platelet count and signs of hemolysis. Plasma exchange and immunological treatment (e.g. high doses of prednisone) are recommended for managing both the acute phase of the syndrome and its relapses.

Key words: ADAMTS 13, Autoimmune diseases, Noonan syndrome, Plasma exchange, Thrombotic thrombocytopenic purpura.