{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T20:14:36Z","timestamp":1773864876939,"version":"3.50.1"},"reference-count":28,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2018,6,11]],"date-time":"2018-06-11T00:00:00Z","timestamp":1528675200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Sanofi Genzyme Australia"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Paediatrics Child Health"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>Pompe disease is a rare, autosomal, recessive disorder. Alterations in the gene encoding lysosomal acid alpha\u2010glucosidase cause impaired glycogen degradation and resultant lysosomal glycogen accumulation. Classic infantile\u2010onset Pompe disease (IPD) manifests soon after birth, severe cases have complete\/near complete enzyme deficiency. IPD is associated with a broad spectrum of non\u2010specific clinical features, and diagnostic delays are common. Without treatment, death typically occurs within the first 2\u2009years of life. We present case experiences to help expand paediatricians\u2019 understanding of factors contributing to diagnostic delay, clinical decline and to highlight the need for timely therapy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Data were extracted from IPD cases managed at our hospital. Key aspects of clinical presentation, diagnosis, genetic variations, management and overall outcomes were collated then compared with what is already known in the literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We report four IPD cases (three female). Two patients were cross\u2010reactive immunological material negative. Age at symptom onset was 3\u20139\u2009months, presenting clinical features were varied, and confirmatory diagnosis was significantly delayed in one patient. In concert with the literature, cardiomegaly, ventricular hypertrophy and delayed developmental milestones were seen in all four cases. Our cases demonstrate a range of disease severity, response to enzyme replacement therapy and antibody development. Significant immune responses were seen in two cases (one cross\u2010reactive immunological material positive); despite immunomodulation therapy, both were associated with fatal outcomes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Timely diagnosis and initiation of enzyme replacement therapy is critical to patient outcomes as IPD progresses rapidly and irreversible changes in clinical status may occur during the delay.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jpc.14070","type":"journal-article","created":{"date-parts":[[2018,6,11]],"date-time":"2018-06-11T13:04:10Z","timestamp":1528722250000},"page":"1255-1261","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Infantile\u2010onset Pompe disease: A case series highlighting early clinical features, spectrum of disease severity and treatment response"],"prefix":"10.1111","volume":"54","author":[{"given":"Penny","family":"Owens","sequence":"first","affiliation":[{"name":"Genetic Metabolic Disorders Service, Western Sydney Genetics Program Children's Hospital at Westmead Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melanie","family":"Wong","sequence":"additional","affiliation":[{"name":"Department of Immunology Children's Hospital at Westmead Sydney New South Wales Australia"},{"name":"Discipline of Child and Adolescent Health University of Sydney Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaustuv","family":"Bhattacharya","sequence":"additional","affiliation":[{"name":"Genetic Metabolic Disorders Service, Western Sydney Genetics Program Children's Hospital at Westmead Sydney New South Wales Australia"},{"name":"Discipline of Child and Adolescent Health University of Sydney Sydney New South Wales Australia"},{"name":"Discipline of Genetic Medicine University of Sydney Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolyn","family":"Ellaway","sequence":"additional","affiliation":[{"name":"Genetic Metabolic Disorders Service, Western Sydney Genetics Program Children's Hospital at Westmead Sydney New South Wales Australia"},{"name":"Discipline of Child and Adolescent Health University of Sydney Sydney New South Wales Australia"},{"name":"Discipline of Genetic Medicine University of Sydney Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,6,11]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnagi.2014.00177"},{"key":"e_1_2_7_3_1","first-page":"3389","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Hirschhorn R","year":"2001"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)61555-X"},{"key":"e_1_2_7_5_1","volume-title":"GeneReviews\u00ae 1993\u20132015","author":"Leslie N","year":"2013"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.09.017"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.11.033"},{"key":"e_1_2_7_8_1","doi-asserted-by":"crossref","first-page":"2431","DOI":"10.1002\/ajmg.a.36110","article-title":"Timing of diagnosis of patients with Pompe disease: Data from the Pompe registry","volume":"161","author":"Kishnani PS","year":"2013","journal-title":"Am. 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