RESUMO
Congenital myotonic dystrophy is an autosomal dominantly inherited myotonic dystrophy, rare form, with an incidence estimated to be 13/100,000 liveborns. Affected newborns can present with intrauterine growth retardation, prematurity, birth asphyxia, respiratory distress, and always exhibit generalized muscular hypotonia. Feeding problems are common and an association with protein losing enteropathy, hydrops fetalis, and persistent pulmonary hypertension of the newborn has been described. Twenty-five percent of the affected infants die within the first 18 months of life. The molecular basis is an unstable DNA fragment consisting of a variable expansion of a CTG triplet, Dystrophia myotonica-protein kinase (DMPK) which is localized on chromosome 19q 13.3. The severity of the disease is directly correlated to the length of the CTG sequence. Women with idiopathic polyhydroamnios, decreased fetal movement, prematurity, hypotonia, should be counselled family, and mother, father and baby should be evaluated congenital myotonic dystrophy, as PCR (polymerase chain reaction). It is possible to diagnose congenital myotonic dystrophy, by PCR, antenatal test, such as CVS, amniocentensis. We experienced a case of recurrent congenital myotonic dystrophy, with neonatal death, twice, and report with a review of related literatures.
Assuntos
Feminino , Humanos , Lactente , Recém-Nascido , Asfixia , DNA , Pai , Retardo do Crescimento Fetal , Movimento Fetal , Hidropisia Fetal , Hipertensão Pulmonar , Incidência , Mães , Hipotonia Muscular , Distrofia Miotônica , Parto , Fosfotransferases , Reação em Cadeia da Polimerase , Enteropatias Perdedoras de Proteínas , TrigêmeosRESUMO
A case of simultaneous bilateral tubal pregnancy following in-vitro fertilization and embryo transfer is presented. On the 22 days after ET, the patient complained of low abdominal pain and vaginal spotting for one day and was suspected of left tubal pregnancy by transvaginal ultrasonography. However, laparoscopy revealed the bilateral tubal pregnancy and laparoscopic bilateral salpingectomy was performed. This unusual type of ectopic pregnancy must be kept in mind when evaluating a patient suspected of a possible early abnormal gestation after assisted reproductive technologies. It is critical to perform a close inspection of the abdomen, pelvis, and contralateral tube during surgery.