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[Polyhydramnios in congenital myotonic dystrophy]
P Wieacker1, C Wilhelm, H Fürste
1Universitäts-Frauenklinik Freiburg.
Zeitschrift Fur Geburtshilfe Und Perinatologie
|January 1, 1988
Summary
Congenital myotonic dystrophy can cause hydramnion (excess amniotic fluid) in pregnancy. This case highlights the importance of considering this genetic disorder in unexplained cases, aiding prenatal diagnosis.
Area of Science:
- Medical Genetics
- Obstetrics
- Neuromuscular Disorders
Context:
- Hydramnion, or excessive amniotic fluid, can complicate pregnancy.
- Congenital myotonic dystrophy is a severe inherited neuromuscular disorder.
- Idiopathic hydramnion lacks a clear identifiable cause.
Purpose:
- To present a case of hydramnion associated with congenital myotonic dystrophy.
- To discuss the diagnostic challenges and potential prenatal diagnostic approaches for this condition.
Summary:
- A 31-year-old primipara presented with hydramnion, with other common causes excluded.
- A cesarean section was performed at 35 weeks due to fetal distress.
- The newborn exhibited symptoms of congenital myotonic dystrophy, confirmed by muscle biopsy, and died at four weeks. Maternal EMG showed carrier status.
Impact:
- This case underscores the need to consider congenital myotonic dystrophy in cases of idiopathic hydramnion.
- It emphasizes the potential for prenatal diagnosis of congenital myotonic dystrophy.
- Highlights the severe implications of congenital myotonic dystrophy for newborns.