ABSTRACT
We describe a case of severe congenital myotonic dystrophy (CDM). A 38-year-old primigravida, who was known to suffer from mild myotonic dystrophy (DM), conceived spontaneously and booked for confinement at 11 weeks in our unit. The couple had been fully counseled about the risks of transmission of this condition to their offspring before embarking on this pregnancy. Despite being fully aware of the risks, they declined prenatal diagnosis. The pregnancy was monitored by serial ultrasound scans. The diagnosis of CDM was suspected by ultrasound markers of borderline ventriculomegaly, polyhydramnios, and reduced fetal movements. The pregnancy ended prematurely at 33 weeks in an emergency caesarean section because of severe fetal compromise. The neonate died almost immediately after birth. The genetic analysis of cord blood confirmed severe DM. This case highlights the importance of ultrasound markers for the diagnosis of CDM in the absence of definitive prenatal diagnosis.
Subject(s)
Myotonic Dystrophy/diagnostic imaging , Pregnancy Complications/diagnostic imaging , Adult , Fatal Outcome , Female , Genetic Predisposition to Disease , Humans , Infant, Newborn , Male , Myotonic Dystrophy/diagnosis , Myotonic Dystrophy/genetics , Pregnancy , Pregnancy Complications/diagnosis , Pregnancy Complications/genetics , Treatment Refusal , Ultrasonography, PrenatalABSTRACT
OBJECTIVE: 1. To assess the contribution of the sarcoplasmic reticulum calcium store in the generation of uterine smooth muscle contractions; 2. to evaluate the contribution of calcium induced calcium release or ryanodine gated calcium channels to myometrial force production. DESIGN: Laboratory scientific study. METHODS: Myometrial strips were obtained from women undergoing elective prelabour caesarean section at term. These were loaded with the calcium sensitive indicator Indo-1 allowing simultaneous assessment of intracellular calcium concentrations and force production. The effect of exposing the strips to ryanodine (which abolishes calcium induced calcium release), caffeine (which activates calcium induced calcium release) and cyclopiazonic acid (which abolishes the sarcoplasmic reticulum calcium store) was examined. RESULTS: Exposure to ryanodine had no appreciable effect on either the amplitude or the duration of the myometrial calcium and force transients but did increase the frequency of contractions (139+/-5%). Caffeine did not potentiate force. Cyclopiazonic acid increased frequency, duration and amplitude of both calcium and force transients. The ability of oxytocin to provoke calcium and force transients in the absence of extracellular calcium was abolished by cyclopiazonic acid but not by ryanodine. CONCLUSIONS: These results demonstrate that calcium induced calcium release does not play a significant role in human myometrium and that no functioning role for the ryanodine receptors in human myometrial tissue could be shown. These data suggest that the sarcoplasmic reticulum may act to limit contractions and act as a calcium sink, rather than to amplify contractions.