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


METHODS
Case report.


METHODS
Neonatal intensive care unit of a tertiary hospital.


METHODS
Newborn twins affected with the congenital form of DM1 and a 35-year-old nulliparous mother.


METHODS
In vitro fertilization.


METHODS
Molecular study of the CTG triplet expansion related with DM1.


RESULTS
Molecular study evidenced a pathologic expansion in both twins as well as in their mother.


CONCLUSIONS
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.
García de Andoin
Nagore
N
Department of Pediatrics, Hospital Donostia, San Sebastián, Spain. ngarbar@yahoo.com
Echeverría
Juncal
J
Cobo
Ana M
AM
Rey
Angel
A
Paisán
Luis
L
López de Munain
Adolfo
A
D000328:Adult; D005260:Female; D005307:Fertilization in Vitro / Q000009:adverse effects*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009223:Myotonic Dystrophy / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D011247:Pregnancy