A Case of Recurrent Hydroamnios in association with Congenital Myotonic Dystrophy.
- Author:
Ok Hyun YANG
1
;
Min Kyu LEE
;
Geun Ho LEE
;
Du Sik GONG
;
Tae Gee JANG
;
Jong Woo BAEK
;
Seung Ryong KANG
;
Young Il BACK
Author Information
1. Department of Obstetrics and Gynecology, College of Medicine, Pochon CHA University, Seoul, Korea. lghzzz@hanmail.net
- Publication Type:Case Report
- Keywords:
Congenital myotonic dystrophy;
Hydroamnios
- MeSH:
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
- From:Korean Journal of Perinatology
2005;16(3):250-254
- CountryRepublic of Korea
- Language:Korean
-
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.
