  |
|
 |
|
Case Report
| ||||||
| Congenital myotonic dystrophy with persistent pulmonary hypertension in the newborn | ||||||
| Vladan Milovanov11, Yanko Petkov1 | ||||||
|
1Department of Paediatrics, Hospital of Southwestern Jutland, Finsensgade 35, 6700 Esbjerg, Denmark.
| ||||||
| ||||||
|
[HTML Full Text]
[PDF Full Text]
[Print This Article]
[Similar article in Pumed] [Similar article in Google Scholar] 
|
| How to cite this article |
| Milovanov V, Petkov Y. Congenital myotonic dystrophy with persistent pulmonary hypertension in the newborn. Int J Case Rep Images 2016;7(7):467–470. |
|
Abstract
|
|
Introduction:
Congenital myotonic dystrophy type 1 (CDM1) is a trinucleotide repeat disorder with early onset of symptoms and high neonatal mortality. Most patients with CDM1 have >1000 CTG repeats; a high number of CTG repeats generally indicate severe disease. CDM1 complicated by persistent pulmonary hypertension in the newborn (PPHN) has seldom been reported, and all previously reported cases have resulted in neonatal death.
Case Report: We present a neonate with CDM1 complicated by PPHN with early onset of symptoms and severe course of disease as a result of anticipation by maternal transmission. A triplet repeat primed polymerase chain reaction (TP-PCR) analysis showed CDM1 with only 800 CTG repeats. The patient was successfully treated by inotropic support and mechanical ventilation. Conclusion: This is the first reported case of CDM1 with PPHN that did not result in neonatal death. More information on association between PPHN and number of CTG repeats in neonates with CDM1 is needed. | |
|
Keywords:
Congenital myotonic dystrophy, Newborn, PPHN, TP-PCR analysis, Neonatal death
| |
|
[HTML Full Text]
[PDF Full Text]
|
|
Author Contributions
Vladan Milovanov – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published Yanko Petkov – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published |
|
Guarantor of submission
The corresponding author is the guarantor of submission. |
|
Source of support
None |
|
Conflict of interest
Authors declare no conflict of interest. |
|
Copyright
© 2016 Vladan Milovanov et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information. |
|
|