An uncommon case of neonatal asphyxia associated with Infantile-Onset Pompe Disease

Introduction Pompe disease, also known as glycogenosis type II or acid maltase deficiency, is autosomal recessive disease caused by deficiency in alpha glucosidase. The severity depends on the age of onset and on the early therapy. Case Presentation we present a case report of a male infant, gestational age of 39 weeks, inborn. Medical history reveals a consanguineous parents with no invasive screening tests performed during pregnancy. At birth, the newborn was atonic, pale and heart frequency was 70 bpm. During reanimation it was necessary positioned umbilical venous catheter and administered three dose of adrenaline and one dose of bicarbonates. At the Neonatal intensive Care Unite he is submitted to therapeutic hypothermia. The screening echocardiography, performed few hours after, showed a picture of severe biventricular and septal hypertrophy as per non-obstructive hypertrophic cardiomyopathy. During the recovery, even after the suspension of hypothermia, the newborn presented an altered neurological sign, characterized by axial hypotonia with a tendency to keep his mouth open with tongue protrusion. In consideration of the clinical picture and the early detection of septal and biventricular hypertrophic we did genetic tests with finding of homozygous variant c.2560C > T in the Acid alpha-glucosidase gene (parents both carriers), described in scientific literature as a pathogenic variant (class 5) associated with glycogenosis of type II (Pompe disease). Conclusion Pompe disease is a rare genetic disease, and it could be difficult to diagnose it at the birth. Suspicion should arise in the presence of hypertrophic cardiomyopathy, associated with an history of neonatal asphyxia and altered neurological signs. The correct diagnosis and early treatment are fundamental to improve patient’s’ survival and quality of life.