Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report

Francesco Pezzoli; Sara Parigi; Marco Moroni; Michele Sacchini; Giorgia Mancano; Andrea Zulli; Francesco Morini; Elena Sandini; Elettra Berti; Gabriella Gabbrielli; Lisa Serafini; Elisabetta Agostini; Angelo Azzarà; Letizia Padrini; Maria Luce Cioni; Anna Ingargiola; Letizia Petrucci; Filomena Paternoster; Serena Catarzi

doi:10.23750/abm.v94iS1.13822

Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report

Authors

Francesco Pezzoli Department of Paediatrics, Meyer Children's Hospital IRCCS, University of Florence, Florence, Italy
Sara Parigi Department of Paediatrics, Meyer Children's Hospital IRCCS, University of Florence, Florence, Italy
Marco Moroni Neonatal Intensive Care Unit, Interdisciplinary Specialistic Department, Intensive Activity and Emergency Area, Meyer Children's Hospital IRCCS, Florence, Italy
Michele Sacchini Metabolic and Muscular Unit, Meyer Children's Hospital IRCCS, Italy
Giorgia Mancano Medical Genetics Unit, Meyer Children's Hospital IRCCS, Florence, Italy.
Andrea Zulli Department of Paediatrics, Meyer Children's Hospital IRCCS, University of Florence, Florence, Italy
Francesco Morini Neonatal Surgery Unit, Meyer Children's Hospital IRCCS, Florence, Italy
Elena Sandini Neonatal Intensive Care Unit, Interdisciplinary Specialistic Department, Intensive Activity and Emergency Area, Meyer Children's Hospital IRCCS, Florence, Italy
Elettra Berti Neonatal Intensive Care Unit, Interdisciplinary Specialistic Department, Intensive Activity and Emergency Area, Meyer Children's Hospital IRCCS, Florence, Italy
Gabriella Gabbrielli Neonatal Intensive Care Unit, Interdisciplinary Specialistic Department, Intensive Activity and Emergency Area, Meyer Children's Hospital IRCCS, Florence, Italy
Lisa Serafini Neonatal Intensive Care Unit, Interdisciplinary Specialistic Department, Intensive Activity and Emergency Area, Meyer Children's Hospital IRCCS, Florence, Italy
Elisabetta Agostini Neonatal Intensive Care Unit, Interdisciplinary Specialistic Department, Intensive Activity and Emergency Area, Meyer Children's Hospital IRCCS, Florence, Italy
Angelo Azzarà Neonatal Intensive Care Unit, Interdisciplinary Specialistic Department, Intensive Activity and Emergency Area, Meyer Children's Hospital IRCCS, Florence, Italy
Letizia Padrini Neonatal Intensive Care Unit, Interdisciplinary Specialistic Department, Intensive Activity and Emergency Area, Meyer Children's Hospital IRCCS, Florence, Italy
Maria Luce Cioni Neonatal Intensive Care Unit, Interdisciplinary Specialistic Department, Intensive Activity and Emergency Area, Meyer Children's Hospital IRCCS, Florence, Italy
Anna Ingargiola Neonatal Intensive Care Unit, Interdisciplinary Specialistic Department, Intensive Activity and Emergency Area, Meyer Children's Hospital IRCCS, Florence, Italy
Letizia Petrucci Neonatal Intensive Care Unit, Interdisciplinary Specialistic Department, Intensive Activity and Emergency Area, Meyer Children's Hospital IRCCS, Florence, Italy
Filomena Paternoster Neonatal Intensive Care Unit, Interdisciplinary Specialistic Department, Intensive Activity and Emergency Area, Meyer Children's Hospital IRCCS, Florence, Italy
Serena Catarzi Neonatal Intensive Care Unit, Interdisciplinary Specialistic Department, Intensive Activity and Emergency Area, Meyer Children's Hospital IRCCS, Florence, Italy

DOI: https://doi.org/10.23750/abm.v94iS1.13822

Keywords:

Congenital Myotonic Dystrophy, Diaphragmatic hernia, Cerebral Ventricular Dilatation

Abstract

Background and aim Myotonic dystrophy (DM) is a genetic disorder determined by an amplified trinucleotide CTG repeat in the untranslated region of the DMPK gene on chromosome 19q13.3. The incidence of the congenital form is 1 in 47619 live births and the mortality in the neonatal period is up to 40%.

Methods: We report a case of congenital DM (CDM, also designated Myotonic Dystrophy Type 1), presented with congenital right diaphragmatic hernia and cerebral bilateral ventricular dilatation, genetically diagnosed.

Conclusions: Since no case of congenital diaphragmatic hernia associated with CDM is reported, the present case report could be considered of particular interest

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