MYH9 과오 돌연변이에 의한 신생아 혈소판감소증 1예

Myosin heavy chain 9 (MYH9)-related disorders (MYH9RD) are autosomal-dominant disorders characterized by macrothrombocytopenia with or without leukocyte inclusion bodies or extra-hematological manifestations, such as sensorineural deafness, cataract, and renal impairment. MYH9RD can be misdiagnosed as an acquired form of thrombocytopenia including neonatal alloimmune thrombocytopenia and immune thrombocytopenic purpura. Here, we report the case of MYH9RD, which was misdiagnosed as alloimmune thrombocytopenia in a newborn with no extra-hematological manifestations and no familial history. Next generation sequencing of the patient revealed a missense mutation c.287C>T(p.Ser96Leu) in exon 2 of MYH9 gene. It is important to conduct a genetic test for suspected MYH9RD in infants who have a macrothrombocytopenia in a peripheral blood smear, extra-hematological manifestations, or do not respond to immunoglobulin or steroid treatment. This can prevent unnecessary tests or treatments. After diagnosis, regular follow-up for deafness, renal impairment, and cataract is required. KCI Citation Count: 0