Acta Biomed

. 2023 Mar 8;94(S1):e2023097.

 doi: 10.23750/abm.v94iS1.13822. https://pubmed.ncbi.nlm.nih.gov/36883684/

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

Francesco Pezzoli ¹, Sara Parigi ², Marco Moroni ³, Michele Sacchini ⁴, Giorgia Mancano ⁵, Andrea Zulli ⁶, Francesco Morini ⁷, Elena Sandini ⁸, Elettra Berti ⁹, Gabriella Gabbrielli ¹⁰, Lisa Serafini ¹¹, Elisabetta Agostini ¹², Angelo Azzarà ¹³, Letizia Padrini ¹⁴, Maria Luce Cioni ¹⁵, Anna Ingargiola ¹⁶, Letizia Petrucci ¹⁷, Filomena Paternoster ¹⁸, Serena Catarzi ¹⁹

Affiliations expand

• PMID: 36883684
• DOI: 10.23750/abm.v94iS1.13822

Free article

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.