日本未熟児新生児学会雑誌　第20巻　第1号　85～90頁（2008年）

日本未熟児新生児学会雑誌　20(1)：85-90；2008　

受付日：平成19．03．12

受理日：平成19．05．29

CTGリピート数の著明な増加を認め，胎児水腫・先天性乳糜胸を合併した重症先天性筋強直性ジストロフィーの1救命例

A Survival Case of Severe Congenital Myotonic Dystrophy with Hydrops Fetalis and Chylothorax, Which has 2,800 to 3,000 CTG Repeats in Myotonic Dystrophy Protein Kinase Gene on Chromosome 19q13.3

＊1神戸大学大学院　医学系研究科　成育医学講座　小児科，＊2同　循環動態医学講座　呼吸循環器外科

＊1 Department of Pediatrics，Kobe University Graduate School of Medicine，＊2 Department of Pediatric Surgery，Kobe University Graduate School of Medicine

榎本真宏＊1・森岡一朗＊1・藤林洋美＊1・粟野宏之＊1・佐藤有美＊1・柴田暁男＊1・高寺明弘＊1・横山直樹＊1・前田貢作＊2・松尾雅文＊1

Masahiro ENOMOTO＊1，Ichiro MORIOKA＊1，Hiromi FUJIBAYASHI＊1，Hiroyuki AWANO＊1， Yumi SATO＊1，Akio SHIBATA＊1，Akihiro TAKATERA＊1，Naoki YOKOYAMA＊1， Kosaku MAEDA＊2，Masafumi MATSUO＊1

Key Words：Congenital myotonic dystrophy（CDM），Myotonic dystrophy protein kinase（DMPK）gene，CTG repeat，Hydrops fetalis，Chylothorax

　症例は，在胎33週1日，出生体重2,190gの女児。母体は今回の妊娠中に筋強直性ジストロフィーと診断された。出生後より胎児水腫および乳糜胸による呼吸障害を呈し，厳重な呼吸循環管理・持続胸腔ドレナージに加え，胸膜癒着療法を要した。児のリンパ球でのMyotonic dystrophy protein kinase（DMPK）遺伝子検査にて2,800～3,000回のCTGリピート数の著明な増加を確認し，先天性筋強直性ジストロフィー（Congenital myotonic dystrophy：CDM）と確定診断した。現在1歳，体重は9kg，人工呼吸管理及び経管栄養を継続中である。本症例はCDMの中でもCTGリピート数が非常に多く，かつ胎児水腫・先天性乳糜胸を合併した最重症例で，救命できた貴重な症例と考えられた。

　A case is a female newborn who was born at 33 weeks gestation with a birth weight of 2,190g. She had severe respiratory distress due to hydrops fetalis and chylothorax from soon after birth. Complete respiratory and circulation managements including continuous thoracic drainage and pleurodesis, therefore, were needed in order to save her life during neonatal periods. She was diagnosed as congenital myotonic dystrophy（CDM）by myotonic dystrophy protein kinase gene analysis from her lymphocytes, in which 2,800 to 3,000 CTG repeats were found. As of March 2007, she is 18 months old, and has a mentally and physically handicap that is needed respiratory management with a mechanical ventilation and nutritional management with a nasogastric tube. Reviewing literatures, this is a valuable case that the severest CDM with hydrops fetalis and chylothorax, which has very large CTG expansion in myotonic dystrophy protein kinase gene on chromosome 19q13.3, was saved.