POLYHYDRAMNIOS AND CONGENITAL MYOTONIC DYSTROPHY: A RARE CASE REPORT

Abstract

The study presents a rare case of a gravida five with bad obstetric history and presenting with idiopathic polyhydramnios. She had history of fresh still births in the first, second and fourth pregnancies and a spontaneous abortion in the third pregnancy. The present antenatal course, ultrasonography observation and maternal examination supported the diagnosis of idiopathic polyhydramnios with congenital myotonic dystrophy. DM1 is a rare genetic disorder and is difficult to diagnose in reproductive women without a previously known family history. Idiopathic polyhydramnios with foetal loss should lead to clinical suspicion of myotonic dystrophy.  These cases with, ultrasonography evidence of hypotonia, should be offered DNA testing for the myotonic dystrophy mutation.