Korean J Perinatol.  2005 Sep;16(3):250-254.

A Case of Recurrent Hydroamnios in association with Congenital Myotonic Dystrophy

• Yang OH
• Lee MK
• Lee GH
• Gong DS
• Jang TG
• Baek JW
• Kang SR
• Back YI

Abstract

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.

Keyword

Congenital myotonic dystrophy; Hydroamnios

MeSH Terms

Asphyxia
DNA
Fathers
Female
Fetal Growth Retardation
Fetal Movement
Humans
Hydrops Fetalis
Hypertension, Pulmonary
Incidence
Infant
Infant, Newborn
Mothers
Muscle Hypotonia
Myotonic Dystrophy*
Parturition
Phosphotransferases
Polymerase Chain Reaction
Protein-Losing Enteropathies
Triplets
DNA
Phosphotransferases