An uncommon case of neonatal asphyxia associated with infantile-onset Pompe disease
Abstract Background Pompe disease, also known as glycogenosis type II or acid maltase deficiency, is an autosomal recessive disease caused by a deficiency of alpha-glucosidase. The severity depends mainly on the type of mutation, which in turn determines early or late onset; therapy modifies the out...
Saved in:
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-08-01
|
| Series: | Italian Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13052-025-02088-3 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849226046308614144 |
|---|---|
| author | Francesco Leo Luca Barchi Giulia Russo Eleonora Balestri Elena Chesi Francesco Di Dio Livia Garavelli Lorenzo Iughetti Giancarlo Gargano |
| author_facet | Francesco Leo Luca Barchi Giulia Russo Eleonora Balestri Elena Chesi Francesco Di Dio Livia Garavelli Lorenzo Iughetti Giancarlo Gargano |
| author_sort | Francesco Leo |
| collection | DOAJ |
| description | Abstract Background Pompe disease, also known as glycogenosis type II or acid maltase deficiency, is an autosomal recessive disease caused by a deficiency of alpha-glucosidase. The severity depends mainly on the type of mutation, which in turn determines early or late onset; therapy modifies the outcome but does not alter the severity of the disease at presentation. Case presentation We present a case report of a male infant, inborn and delivered at a gestational age of 39 weeks. Medical history reveals consanguineous parents with no invasive screening tests performed during pregnancy. They chose not to undergo prenatal screening even though they were aware of the risks associated with their consanguinity. At birth, the newborn was atonic and pale, with a heart rate of 70 bpm. During resuscitation, an umbilical venous catheter was placed, and three doses of adrenaline and one dose of bicarbonate were administered. At the Neonatal Intensive Care Unit, he underwent therapeutic hypothermia. Echocardiography, performed a few hours later, revealed severe biventricular and septal hypertrophy consistent with non-obstructive hypertrophic cardiomyopathy. During recovery, even after the discontinuation of hypothermia, the newborn exhibited abnormal neurological signs, including axial hypotonia and a tendency to keep his mouth open with tongue protrusion. Given the clinical picture and the early detection of septal and biventricular hypertrophy, genetic testing was performed, revealing a homozygous c.2560 C > T variant in the acid alpha-glucosidase gene (both parents were carriers), described in scientific literature as a class 5 pathogenic variant associated with glycogenosis type II (Pompe disease). Conclusion 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. |
| format | Article |
| id | doaj-art-257c4596f20a4cafb681f5d4762fbc2a |
| institution | Kabale University |
| issn | 1824-7288 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | BMC |
| record_format | Article |
| series | Italian Journal of Pediatrics |
| spelling | doaj-art-257c4596f20a4cafb681f5d4762fbc2a2025-08-24T11:41:32ZengBMCItalian Journal of Pediatrics1824-72882025-08-015111610.1186/s13052-025-02088-3An uncommon case of neonatal asphyxia associated with infantile-onset Pompe diseaseFrancesco Leo0Luca Barchi1Giulia Russo2Eleonora Balestri3Elena Chesi4Francesco Di Dio5Livia Garavelli6Lorenzo Iughetti7Giancarlo Gargano8Neonatal Intensive Care Unit, Azienda USL-IRCCS di Reggio EmiliaPostgraduate School of Pediatrics, Department of Medical and Surgical Sciences of the Mother, Children, and Adults, University of Modena and Reggio EmiliaPostgraduate School of Pediatrics, Department of Medical and Surgical Sciences of the Mother, Children, and Adults, University of Modena and Reggio EmiliaNeonatal Intensive Care Unit, Azienda USL-IRCCS di Reggio EmiliaNeonatal Intensive Care Unit, Azienda USL-IRCCS di Reggio EmiliaNeonatal Intensive Care Unit, Azienda USL-IRCCS di Reggio EmiliaMedical Genetics Unit, Department of Mother and Children, Azienda USL-IRCCS di Reggio EmiliaPostgraduate School of Pediatrics, Department of Medical and Surgical Sciences of the Mother, Children, and Adults, University of Modena and Reggio EmiliaNeonatal Intensive Care Unit, Azienda USL-IRCCS di Reggio EmiliaAbstract Background Pompe disease, also known as glycogenosis type II or acid maltase deficiency, is an autosomal recessive disease caused by a deficiency of alpha-glucosidase. The severity depends mainly on the type of mutation, which in turn determines early or late onset; therapy modifies the outcome but does not alter the severity of the disease at presentation. Case presentation We present a case report of a male infant, inborn and delivered at a gestational age of 39 weeks. Medical history reveals consanguineous parents with no invasive screening tests performed during pregnancy. They chose not to undergo prenatal screening even though they were aware of the risks associated with their consanguinity. At birth, the newborn was atonic and pale, with a heart rate of 70 bpm. During resuscitation, an umbilical venous catheter was placed, and three doses of adrenaline and one dose of bicarbonate were administered. At the Neonatal Intensive Care Unit, he underwent therapeutic hypothermia. Echocardiography, performed a few hours later, revealed severe biventricular and septal hypertrophy consistent with non-obstructive hypertrophic cardiomyopathy. During recovery, even after the discontinuation of hypothermia, the newborn exhibited abnormal neurological signs, including axial hypotonia and a tendency to keep his mouth open with tongue protrusion. Given the clinical picture and the early detection of septal and biventricular hypertrophy, genetic testing was performed, revealing a homozygous c.2560 C > T variant in the acid alpha-glucosidase gene (both parents were carriers), described in scientific literature as a class 5 pathogenic variant associated with glycogenosis type II (Pompe disease). Conclusion 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.https://doi.org/10.1186/s13052-025-02088-3AsphyxiaLeonatalPompe diseaseHeart diseaseNewborn screening |
| spellingShingle | Francesco Leo Luca Barchi Giulia Russo Eleonora Balestri Elena Chesi Francesco Di Dio Livia Garavelli Lorenzo Iughetti Giancarlo Gargano An uncommon case of neonatal asphyxia associated with infantile-onset Pompe disease Italian Journal of Pediatrics Asphyxia Leonatal Pompe disease Heart disease Newborn screening |
| title | An uncommon case of neonatal asphyxia associated with infantile-onset Pompe disease |
| title_full | An uncommon case of neonatal asphyxia associated with infantile-onset Pompe disease |
| title_fullStr | An uncommon case of neonatal asphyxia associated with infantile-onset Pompe disease |
| title_full_unstemmed | An uncommon case of neonatal asphyxia associated with infantile-onset Pompe disease |
| title_short | An uncommon case of neonatal asphyxia associated with infantile-onset Pompe disease |
| title_sort | uncommon case of neonatal asphyxia associated with infantile onset pompe disease |
| topic | Asphyxia Leonatal Pompe disease Heart disease Newborn screening |
| url | https://doi.org/10.1186/s13052-025-02088-3 |
| work_keys_str_mv | AT francescoleo anuncommoncaseofneonatalasphyxiaassociatedwithinfantileonsetpompedisease AT lucabarchi anuncommoncaseofneonatalasphyxiaassociatedwithinfantileonsetpompedisease AT giuliarusso anuncommoncaseofneonatalasphyxiaassociatedwithinfantileonsetpompedisease AT eleonorabalestri anuncommoncaseofneonatalasphyxiaassociatedwithinfantileonsetpompedisease AT elenachesi anuncommoncaseofneonatalasphyxiaassociatedwithinfantileonsetpompedisease AT francescodidio anuncommoncaseofneonatalasphyxiaassociatedwithinfantileonsetpompedisease AT liviagaravelli anuncommoncaseofneonatalasphyxiaassociatedwithinfantileonsetpompedisease AT lorenzoiughetti anuncommoncaseofneonatalasphyxiaassociatedwithinfantileonsetpompedisease AT giancarlogargano anuncommoncaseofneonatalasphyxiaassociatedwithinfantileonsetpompedisease AT francescoleo uncommoncaseofneonatalasphyxiaassociatedwithinfantileonsetpompedisease AT lucabarchi uncommoncaseofneonatalasphyxiaassociatedwithinfantileonsetpompedisease AT giuliarusso uncommoncaseofneonatalasphyxiaassociatedwithinfantileonsetpompedisease AT eleonorabalestri uncommoncaseofneonatalasphyxiaassociatedwithinfantileonsetpompedisease AT elenachesi uncommoncaseofneonatalasphyxiaassociatedwithinfantileonsetpompedisease AT francescodidio uncommoncaseofneonatalasphyxiaassociatedwithinfantileonsetpompedisease AT liviagaravelli uncommoncaseofneonatalasphyxiaassociatedwithinfantileonsetpompedisease AT lorenzoiughetti uncommoncaseofneonatalasphyxiaassociatedwithinfantileonsetpompedisease AT giancarlogargano uncommoncaseofneonatalasphyxiaassociatedwithinfantileonsetpompedisease |