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Revista chilena de obstetricia y ginecología

versión On-line ISSN 0717-7526

Resumen

IACOPONI, Sara et al. Enfermedad de Steinert y embarazo: caso clínico. Rev. chil. obstet. ginecol. [online]. 2011, vol.76, n.4, pp.257-260. ISSN 0717-7526.  http://dx.doi.org/10.4067/S0717-75262011000400008.

Steinert's disease is a genetic condition, which is inherited in an autosomal dominant pattern, result from expansion of CTG trinucleotide repeat gene on chromosome 19, enconding a putative protein kinase. It is a severe form of muscular dystrophy marked by generalised weakness and muscular wasting. The onset can be any time from birth to middle age. The complications during pregnancy are miscarriage, premature labour, hydramnios, atonic postpartum hemorrhage, difficulties during delivery, anesthetic accidents. We report the case of a healthy 37 years old pregnant, with an ordinary family anamnesis. She was diagnosed of gestational diabetes and inespecific polyhydramnios during her 30 week of pregnancy. Due to labour contractions and metrorrhagia in the 35 week she came to our emergency department. She underwent a cesarean section delivery of a male baby, who suffered severe breathing difficulties and generalized myotonia. Afterwards, the baby was diagnosticated with Steinert's congenital disease. Following genetic analysis of the mother revealed that she also suffers Steinert's disease. The diagnosis of the congenital Steinert's disease is really difficult, when the parents are unaware of the disease. Our objective is to emphasize in the importance of a good anamnesis and the characters that can be found out by ultrasound like hydramnios, reduction of fetal tone and active movements, micrognathia, arthrogryposis, that can bring us at least to a prenatal suspicion.

Palabras clave : Steinert s disease; polyhydramnios; myotonic dystrophia; pregnancy.

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