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