선천성 혈소판감소증을 동반한 GNE 근육병증

Abstract

GNE myopathy is a distal dominant myopathy with characteristic sparing of quadriceps, which is known to be caused by mutation of the GNE gene. Recently, there were some reports of thrombocytopenia that concurred with GNE myopathy. We also present a case of GNE myopathy with thrombocytopenia, having c.1664C>T (p.A555V) and c.1807G>C(p.V603L) mutations. These two are already well-known mutations, found commonly in multiple reports. We reviewed other cases of thrombocytopenia in GNE myopathy and concluded that thrombocytopenia may not be restricted to any specific mutation in the GNE gene or any one of two enzymes. Even so, a GNE gene defect can be the causative mutation for these cases of congenital thrombocytopenia, considering that hyposialylation of platelets may cause shortening of its lifespan, and the incidence of thrombocytopenia in GNE myopathy is much higher than in the normal population.