title: A case report on 30-week premature twin babies with congenital myotonic dystrophy conceived by in vitro fertilization.
abstract: Congenital myotonic dystrophy type 1 (DM1) presents severe generalized weakness, hypotonia, and respiratory compromise after delivery with high mortality and poor prognosis. We presented a congenital DM1 of premature twins in the 30th week of gestation. These twins were conceived by in vitro fertilization (IVF). Both babies presented apnea and hypotonia and had characteristic facial appearance. They were diagnosed DM1 by genetic method. They were complicated by chylothorax and expired at 100 and 215 days of age, respectively. Mother was diagnosed DM1 during the evaluation of babies. This is the first report on congenital DM1 which accompanied the chylothorax. More investigation on the association with chylothorax and congenital DM1 is recommended. With a case of severe neonatal hypotonia, congenital DM1 should be differentiated in any gestational age. Finally, since DM1 is a cause of infertility, we should consider DM1 in infertility clinic with detailed history and physical examination.
authors.affiliation: Department of Pediatrics, Cheil General Hospital and Women's Healthcare Center and College of Medicine, Kwandong University, Seoul, Korea.
authors.forename: Su Bin
authors.initials: SB
authors.lastname: Son
authors.forename: Jung Mi
authors.initials: JM
authors.lastname: Chun
authors.forename: Kyung Ah
authors.initials: KA
authors.lastname: Kim
authors.forename: Sun Young
authors.initials: SY
authors.lastname: Ko
authors.forename: Yeon Kyung
authors.initials: YK
authors.lastname: Lee
authors.forename: Son Moon
authors.initials: SM
authors.lastname: Shin
mesh_terms: D000328:Adult; D001049:Apnea / Q000209:etiology; D015139:Blotting, Southern; D002916:Chylothorax / Q000150:complications; D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D018895:Microsatellite Repeats / Q000235:genetics; D009123:Muscle Hypotonia / Q000209:etiology; D009223:Myotonic Dystrophy / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging; D011859:Radiography; D014427:Twins
keywords: Dizygotic; Fertilization In Vitro; Myotonic Dystrophy; Prematurity; Twins