Portal de Periódicos da CAPES

A neonatal form of Steinert's myotonic dystrophy in twins after in vitro fertilization

2005; Elsevier BV; Volume: 84; Issue: 3 Linguagem: Inglês

10.1016/j.fertnstert.2005.03.062

1556-5653

Nagore García de Andoín, Juncal Echeverría, Ana María Cobo, Ángel Rey, Luis Paisán, Adolfo López de Munaín,

Parkinson's Disease Mechanisms and Treatments

ObjectiveTo report a case of nonidentical twins affected with a congenital form of Steinert's myotonic dystrophy (DM1), conceived by IVF owing to parental sterility, in which the mother presented a paucisymptomatic form of DM1 which was diagnosed as a result of the condition inherited by the twins.DesignCase report.SettingNeonatal intensive care unit of a tertiary hospital.Patient(s)Newborn twins affected with the congenital form of DM1 and a 35-year-old nulliparous mother.Intervention(s)In vitro fertilization.Main Outcome Measure(s)Molecular study of the CTG triplet expansion related with DM1.Result(s)Molecular study evidenced a pathologic expansion in both twins as well as in their mother.Conclusion(s)This case should serve as a reminder to practitioners that assisted reproductive techniques have opened the possibility that asymptomatic or paucisymptomatic carriers of a genetic syndrome can inadvertently conceive fetuses affected with more serious forms of the illness. To report a case of nonidentical twins affected with a congenital form of Steinert's myotonic dystrophy (DM1), conceived by IVF owing to parental sterility, in which the mother presented a paucisymptomatic form of DM1 which was diagnosed as a result of the condition inherited by the twins. Case report. Neonatal intensive care unit of a tertiary hospital. Newborn twins affected with the congenital form of DM1 and a 35-year-old nulliparous mother. In vitro fertilization. Molecular study of the CTG triplet expansion related with DM1. Molecular study evidenced a pathologic expansion in both twins as well as in their mother. This case should serve as a reminder to practitioners that assisted reproductive techniques have opened the possibility that asymptomatic or paucisymptomatic carriers of a genetic syndrome can inadvertently conceive fetuses affected with more serious forms of the illness.