Protein S異常症（Protein S-Tokushima）の乳児に発症した特発性脳内出血の1例

Primary Thalamic Hemorrhage Penetrating to the Lateral Ventricle in an Infant with Abnormal Protein S (Protein S-Tokushima)

　Protein-S Tokushima異常症を伴った，正常分娩出生の3カ月の乳児に発症した特発性脳内出血について報告する。発熱，嘔吐で発症し，頭部CT，MRIで視床出血脳室内穿破が見られたが，造影MRI，MRAを含む検査では血管奇形，脳腫瘍を疑わせる所見はなく特発性脳内出血と診断した。血液検査ではProtein-S活性の低下が見られ遺伝子検査を行いProtein-S Tokushimaと呼ばれる遺伝子変異が確認された。通常，Pro-tein-S Tokushima変異を持つ患者では血栓傾向を示すが，われわれの症例では特発性脳出血を発症していた点で興味深かった。特発性脳出血と血栓傾向の関係について考察を加え報告する。

We experienced a 3 months infant with thalamic hemorrhage penetrating to lateral ventricle with ab-normal Protein S. Although the coagulation factor and fibrinogenolysis factors were evaluated, there were no remarkable abnormal laboratory data except for slightly decline of Protein S. The DNA analysis was performed for Protein S, and a missense mutation (A to G transmission) was found, which was resulting in Lys-155 to Glu. The total Protein S antigen was nor-mal level, but co-factor activity for activated Protein C was declined.