Schwerer hereditärer Protein-C-Mangel bei einem Neugeborenen mit Purpura fulminans - erfolgreiche Behandlung mit Phenprocoumon*

Abstract

A newborn baby was born with scrotal hematoma and a diagnosis of testicular torsion was made. This diagnosis proved false, when the hematoma was resorbed after a few days and other hematomas developed instead (abdomen, elbow, foot, scalp). A total of nine hemorrhagic episodes were observed, most of them occurring on the scalp. All lesions were sharply delineated, started with red to purple discoloration and then turned to bluish-black indicating gangrene. Histology revealed extensive bleeding into the corium, fibrin thrombi within the capillaries, and complement and IgG in the small arterial walls. Each bleeding was associated with hypofibrinogenemia and thrombocytopenia. A diagnosis of hereditary protein C deficiency was made. Blood levels were consistent with heterozygosity of both the parents and homzygosity of the child. Bleedings were controlled by Cohn fraction I and heparin. It was impossible, however, to prevent further hemorrhage by continuous i.v. heparin. In addition aprotinin, epsilonaminocaproic acid, AT III, and prednisone were ineffective. Continuous remission finally could be sustained with oral phenprocoumon.

Zusammenfassung

Wir berichten über ein Neugeborenes mit schwerster rezidivierender Purpura fulminans. Als Ursache konnte ein hereditärer Mangel des Vitamin K-abhängigen antikoagulatorischen Plasmaproteins Protein C nachgewiesen werden. Durch Gabe von Cohn Fraktion I unter Heparinschutz konnten die Blutungen jeweils zum Stehen gebracht werden. Eine Verhütung neuer Schübe durch Dauerheparinisierung gelang jedoch nicht. Gleichfalls wirkungslos waren Aprotinin (Trasylol^®), Epsilonaminocapronsäure, AT III und Prednison. Erst durch den Einsatz von Phenprocoumon (Marcumar^®) wurde das Kind rezidivfrei.