Yamaguchi Kyohei, Tanaka Hiroaki, Furuhashi Fumi H, Tanaka Kayo, Kondo Eiji, Ikeda Tomoaki
Department of Obstetrics and Gynecology, Mie University, Mie, Japan.
Case Rep Obstet Gynecol. 2019 Feb 14;2019:4290145. doi: 10.1155/2019/4290145. eCollection 2019.
Myotonic dystrophy is an autosomal-dominant disorder. Its congenital type is the most severe form, with respiratory failure that can be a life-threatening event after birth. There are no antenatal treatments that can improve neonatal outcomes of myotonic dystrophy. We treated a fetus with congenital myotonic dystrophy by administering indomethacin to the 31-year-old Japanese mother affected by myotonic dystrophy and polyhydramnios. We observed increased fetal breathing movement and a reduction of the amniotic fluid volume. The baby was born at 37 weeks and discharged from the neonatal intensive care unit with a favorable outcome. Indomethacin treatment is likely to improve fetal lung function and to control the amniotic fluid volume. This report emphasizes the importance of further investigations regarding the optimal management of congenital myotonic dystrophy.
强直性肌营养不良是一种常染色体显性疾病。其先天性类型是最严重的形式，呼吸衰竭在出生后可能是危及生命的事件。目前尚无产前治疗方法可改善强直性肌营养不良的新生儿结局。我们对一名患有先天性强直性肌营养不良的胎儿进行了治疗，方法是给一名31岁患强直性肌营养不良和羊水过多的日本母亲使用吲哚美辛。我们观察到胎儿呼吸运动增加，羊水量减少。婴儿在37周时出生，并从新生儿重症监护病房出院，结局良好。吲哚美辛治疗可能会改善胎儿肺功能并控制羊水量。本报告强调了进一步研究先天性强直性肌营养不良最佳管理方法的重要性。
