A case report on 30-week premature twin babies with congenital myotonic dystrophy conceived by in vitro fertilization.

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.

Risk factors for intrauterine constraint are associated with ultrasonographically detected severe fibrosis in early congenital muscular torticollis.

BACKGROUND/PURPOSE: The etiology of congenital muscular torticollis (CMT) remains controversial. Ultrasonographically, severe fibrosis involving the entire sternocleidomastoid muscle (SCM; type 3 or 4) fibrosis has been associated with poor clinical outcomes and indicates a chronic state of the condition. The purpose of this study was to test whether or not type 3 or 4 fibrosis detected early after birth is associated with factors related to prolonged intrauterine constraint. METHODS: Sixty-seven patients (age, <3 months) with CMT were classified into 4 different ultrasonographic types according to the severity of SCM fibrosis. The odds ratio for the relationship between probability of type 3 or 4 and factors related to intrauterine constraint were calculated by a multivariate logistic regression model. RESULTS: None were classified as type 4. Twenty-three patients (34%) had a history of breech presentation, and 21 (91.3%) of them were delivered by elective cesarean section without likelihood of birth trauma. Compared with normal pregnancy, breech presentation and oligohydramnios showed a 6.7 or 7.5 times higher probability for type 3 fibrosis, respectively. CONCLUSION: Risk factors for intrauterine constraint appear to be associated with ultrasonographically detected severe fibrosis involving the entire SCM muscle in early presenting CMT.