Literature DB >> 23091329

A case report on 30-week premature twin babies with congenital myotonic dystrophy conceived by in vitro fertilization.

Su Bin Son1, Jung Mi Chun, Kyung Ah Kim, Sun Young Ko, Yeon Kyung Lee, Son Moon Shin.   

Abstract

Congenital myotonic dystrophy type 1 (DM1) presents severe generalized weakness, hypotonia, and respiratory compromise after delivery with high mortality and poor prognosis. We presented a congenital DM1 of premature twins in the 30th week of gestation. These twins were conceived by in vitro fertilization (IVF). Both babies presented apnea and hypotonia and had characteristic facial appearance. They were diagnosed DM1 by genetic method. They were complicated by chylothorax and expired at 100 and 215 days of age, respectively. Mother was diagnosed DM1 during the evaluation of babies. This is the first report on congenital DM1 which accompanied the chylothorax. More investigation on the association with chylothorax and congenital DM1 is recommended. With a case of severe neonatal hypotonia, congenital DM1 should be differentiated in any gestational age. Finally, since DM1 is a cause of infertility, we should consider DM1 in infertility clinic with detailed history and physical examination.

Entities:  

Keywords:  Dizygotic; Fertilization In Vitro; Myotonic Dystrophy; Prematurity; Twins

Mesh:

Year:  2012        PMID: 23091329      PMCID: PMC3468768          DOI: 10.3346/jkms.2012.27.10.1269

Source DB:  PubMed          Journal:  J Korean Med Sci        ISSN: 1011-8934            Impact factor:   2.153


  15 in total

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Authors:  Carlo Foresta; Alberto Ferlin; Luca Gianaroli; Bruno Dallapiccola
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Journal:  J Pediatr       Date:  1988-09       Impact factor: 4.406

3.  Hydrops fetalis associated with congenital myotonic dystrophy.

Authors:  A M Afifi; A R Bhatia; F Eyal
Journal:  Am J Obstet Gynecol       Date:  1992-03       Impact factor: 8.661

Review 4.  The myotonic dystrophies: diagnosis and management.

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Journal:  J Neurol Neurosurg Psychiatry       Date:  2010-02-22       Impact factor: 10.154

5.  Intrinsic intrathoracic malformations of the fetus: sonographic detection and clinical presentation.

Authors:  E A Reece; C J Lockwood; N Rizzo; G Pilu; L Bovicelli; J C Hobbins
Journal:  Obstet Gynecol       Date:  1987-10       Impact factor: 7.661

Review 6.  Outcome in pregnancies complicated by myotonic dystrophy: a study of 31 patients and review of the literature.

Authors:  Sabine Rudnik-Schöneborn; Klaus Zerres
Journal:  Eur J Obstet Gynecol Reprod Biol       Date:  2004-05-10       Impact factor: 2.435

7.  Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn).

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8.  Intergenerational instability of the expanded CTG repeat in the DMPK gene: studies in human gametes and preimplantation embryos.

Authors:  Nele De Temmerman; Karen Sermon; Sara Seneca; Martine De Rycke; Pierre Hilven; Willy Lissens; André Van Steirteghem; Inge Liebaers
Journal:  Am J Hum Genet       Date:  2004-06-07       Impact factor: 11.025

9.  DNA confirmation of congenital myotonic dystrophy in non-immune hydrops fetalis.

Authors:  R F Stratton; R M Patterson
Journal:  Prenat Diagn       Date:  1993-11       Impact factor: 3.050

10.  Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

Authors:  J D Brook; M E McCurrach; H G Harley; A J Buckler; D Church; H Aburatani; K Hunter; V P Stanton; J P Thirion; T Hudson
Journal:  Cell       Date:  1992-02-21       Impact factor: 41.582

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  2 in total

Review 1.  Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature.

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2.  Intergenerational Influence of Gender and the DM1 Phenotype of the Transmitting Parent in Korean Myotonic Dystrophy Type 1.

Authors:  Ji Yoon Han; Woori Jang; Joonhong Park
Journal:  Genes (Basel)       Date:  2022-08-17       Impact factor: 4.141

  2 in total

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