RESUMEN
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.
Asunto(s)
Femenino , Humanos , Lactante , Recién Nacido , Asfixia , ADN , Padre , Retardo del Crecimiento Fetal , Movimiento Fetal , Hidropesía Fetal , Hipertensión Pulmonar , Incidencia , Madres , Hipotonía Muscular , Distrofia Miotónica , Parto , Fosfotransferasas , Reacción en Cadena de la Polimerasa , Enteropatías Perdedoras de Proteínas , TrillizosRESUMEN
Incarceration of the gravid uterus is a rare but serious complication of pregnancy. Reported is the case of a gravid 2, para 0, abortus 1 with known uterine subserosal myoma(5.3 x5.5cm sized) 26-year-old woman presented with acute dysuria and urinary retention. The patient was 14 weeks and 3 days pregnant and presented several week history of urinary frequency and sensation of incomplete bladder emptying. Examination revealed a retroflexed uterus with cervical opening pointing toward the anterior abdominal wall. An ultrasound revealed a thin, elongated maternal bladder and a uterus incarcerated between the sacral promontary and the pubis. The incarceration was successfully reduced by tenaculum traction of the cervical posterior lip without surgical intervention and had a normal infant of appropriate weight at term.