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 inci-dence 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. (www.actabiomedica.it)
Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report / Parigi, S.; Pezzoli, F.; Petrucci, L.; Paternoster, M. F.; Cioni, M. L.; Agostini, E.; Serafini, L.; Ingargiola, A.; Catarzi, S.; Padrini, L.; Gabbrielli, G.; Berti, E.; Sandini, E.; Azzara, A.; Morini, F.; Sacchini, M.; Mancano, G.; Zulli, A.; Moroni, M.. - In: ACTA BIO-MEDICA DE L'ATENEO PARMENSE. - ISSN 0392-4203. - 94:(2023). [10.23750/abm.v94iS1.13822]
Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report
Morini F.;
2023
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 inci-dence 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. (www.actabiomedica.it)I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
