An uncommon case of neonatal asphyxia associated with infantile-onset Pompe disease
Pompe disease is a rare genetic disorder and may be difficult to diagnose at birth. Suspicion should arise in the presence of hypertrophic cardiomyopathy, especially when associated with a history of neonatal asphyxia and abnormal neurological signs. An accurate diagnosis and early treatment are essential to improving the patient's survival and quality of life.
Authors
- Elena Chesi
- Livia Garavelli (ORCID: https://orcid.org/0000-0002-7684-3982)
- Eleonora Balestri (ORCID: https://orcid.org/0000-0003-3368-8430)
- Lorenzo Iughetti (ORCID: https://orcid.org/0000-0003-0370-7872)
- Giulia Russo (ORCID: https://orcid.org/0000-0002-2338-492X)
- Luca Barchi (ORCID: https://orcid.org/0000-0002-9776-8707)
- Giancarlo Gargano
- Francesco Di Dio
- Francesco Leo
Institutions
- University of Modena and Reggio Emilia (IT)
- Azienda Sanitaria Unità Locale di Reggio Emilia (IT)
Publication Details
- Journal
- The Italian Journal of Pediatrics/Italian journal of pediatrics
- Published
- 2025-08-22
- DOI
- https://doi.org/10.1186/s13052-025-02088-3
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00