{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T17:31:43Z","timestamp":1790098303951,"version":"4.0.1"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T00:00:00Z","timestamp":1710720000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T00:00:00Z","timestamp":1710720000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Pediatr"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Pompe disease, classified as glycogen storage disease type II, arises from a deficiency in the acid alpha-glucosidase (GAA) enzyme, leading to glycogen accumulation in multiple tissues. The unique correlation between genotype and enzyme activity is a key feature. This case highlights an infantile-onset form, emphasizing genetic counseling and prenatal testing importance.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Presentation<\/jats:title>\n                    <jats:p>An 18-week-old infant with respiratory distress, cyanosis, and fever was admitted. Born healthy, her sibling died from Pompe disease. She presented with cardiomegaly, hypotonia, and absent reflexes. Diagnosis was confirmed by significantly reduced GAA activity. Despite treatment initiation, the patient succumbed to cardiac arrest.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The case underscores genetic counseling\u2019s role, offering insights into prenatal testing advancements, antenatal diagnosis through echocardiography, and the significance of early intervention, particularly in infantile-onset Pompe disease.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Synopsis<\/jats:title>\n                    <jats:p>Genetic risk assessment and prenatal testing are crucial for families with a history of Pompe disease to improve early diagnosis and management outcomes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12887-024-04690-6","type":"journal-article","created":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T05:02:23Z","timestamp":1710738143000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing"],"prefix":"10.1186","volume":"24","author":[{"given":"Yasaman","family":"Alizadeh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hossein","family":"Saidi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5970-2777","authenticated-orcid":false,"given":"Vahid","family":"Saeedi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leila","family":"Kamalzadeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,3,18]]},"reference":[{"key":"4690_CR1","doi-asserted-by":"crossref","unstructured":"Bia\u0142ow\u0105s E, Mazurek M, Aghadi A, Cuber I, Dyba\u0142a E, Szela K. Pompe disease - what do we currently know about the disease? J Educ Health Sport. 2023;13(4).","DOI":"10.12775\/JEHS.2023.13.04.007"},{"key":"4690_CR2","unstructured":"Leslie N, Bailey L. Pompe Disease - GeneReviews\u2122 - NCBI Bookshelf. In: GeneReviews\u00ae [Internet]. 2017."},{"key":"4690_CR3","doi-asserted-by":"crossref","unstructured":"Fatehi F, Ashrafi MR, Babaee M, Ansari B, Beiraghi Toosi M, Boostani R et al. Recommendations for infantile-onset and late-onset pompe disease: an Iranian Consensus. 12, Frontiers in Neurology. 2021.","DOI":"10.3389\/fneur.2021.739931"},{"key":"4690_CR4","doi-asserted-by":"crossref","unstructured":"Hakim Shooshtari M, Shariati B, Kamalzadeh L, Naserbakht M, Tayefi B, Taban M. The prevalence of attention deficit hyperactivity disorder in Iran: An updated systematic review TT -. MJIRI [Internet]. 2021;35(1):60\u201371. Available from: http:\/\/mjiri.iums.ac.ir\/article-1-6032-en.html","DOI":"10.47176\/mjiri.35.8"},{"key":"4690_CR5","volume-title":"Pompe disease: clinical perspectives","author":"JF Cabello","year":"2017","unstructured":"Cabello JF, Marsden D. Pompe disease: clinical perspectives. Volume 7. Orphan Drugs: Research and Reviews; 2017."},{"key":"4690_CR6","doi-asserted-by":"crossref","unstructured":"Peruzzo P, Pavan E, Dardis A. Molecular genetics of pompe disease: a comprehensive overview. Ann Transl Med. 2019;7(13).","DOI":"10.21037\/atm.2019.04.13"},{"key":"4690_CR7","doi-asserted-by":"crossref","unstructured":"Lim JA, Li L, Raben N. Pompe disease: from pathophysiology to therapy and back again. 6, Frontiers in Aging Neuroscience. 2014.","DOI":"10.3389\/fnagi.2014.00177"},{"key":"4690_CR8","doi-asserted-by":"crossref","unstructured":"Atherton AM, Day-Salvatore D. The role of genetic counseling in pompe disease after patients are identified through newborn screening. Pediatrics. 2017;140.","DOI":"10.1542\/peds.2016-0280F"},{"key":"4690_CR9","doi-asserted-by":"crossref","unstructured":"Neshan M, Malakouti SK, Kamalzadeh L, Makvand M, Campbell A, Ahangari G. Alterations in T-Cell transcription factors and cytokine gene expression in late-onset Alzheimer\u2019s Disease. J Alzheimer\u2019s Disease. 2022;85(2).","DOI":"10.3233\/JAD-210480"},{"key":"4690_CR10","doi-asserted-by":"crossref","unstructured":"McCarthy Veach P, LeRoy BS, Callanan NP. Facilitating the Genetic Counseling Process. Facilitating the Genetic Counseling Process. 2018.","DOI":"10.1007\/978-3-319-74799-6"},{"key":"4690_CR11","doi-asserted-by":"crossref","unstructured":"Kronn D, Mofidi S, Braverman N, Harris K. Diagnostic guidelines for newborns who screen positive in newborn screening. Genet Sci. 2010;12(12 SUPPL).","DOI":"10.1097\/GIM.0b013e3181fe5d8b"},{"key":"4690_CR12","doi-asserted-by":"crossref","unstructured":"Hamdan MA, El-Zoabi BA, Begam MA, Mirghani HM, Almalik MH. Antenatal diagnosis of pompe disease by fetal echocardiography: Impact on outcome after early initiation of enzyme replacement therapy. J Inherit Metab Dis. 2010;33(SUPPL. 3).","DOI":"10.1007\/s10545-010-9179-2"},{"key":"4690_CR13","doi-asserted-by":"crossref","unstructured":"Hamdan MA. Cardiac aspects in infants with pompe disease: antenatal diagnosis by fetal echocardiography improves outcome. Clin Ther. 2010;32.","DOI":"10.1016\/S0149-2918(10)00090-1"},{"key":"4690_CR14","doi-asserted-by":"crossref","unstructured":"Zhang YF, Zeng XL, Zhao EF, Lu HW. Diagnostic value of fetal echocardiography for congenital heart disease. Vol. 94, Medicine (United States). 2015.","DOI":"10.1097\/MD.0000000000001759"},{"key":"4690_CR15","doi-asserted-by":"crossref","unstructured":"Xi H, Li X, Ma L, Yin X, Yang P, Zhang L. Infantile pompe disease with intrauterine onset: a case report and literature review. Ital J Pediatr. 2022;48(1).","DOI":"10.1186\/s13052-022-01379-3"},{"key":"4690_CR16","doi-asserted-by":"crossref","unstructured":"Sawada T, Kido J, Nakamura K. Newborn screening for pompe disease. 6, Int J Neonatal Screen. 2020.","DOI":"10.3390\/ijns6020031"},{"key":"4690_CR17","doi-asserted-by":"crossref","unstructured":"Kho M, Gonsalves Z, Duffy L, Kronn D. P687: state of play: the current landscape of newborn screening for pompe disease in the United States. Genet Med Open. 2023;1(1).","DOI":"10.1016\/j.gimo.2023.100759"},{"key":"4690_CR18","doi-asserted-by":"publisher","unstructured":"World Medical Association. World medical association declaration of Helsinki: ethical principles for medical research involving human subjects. JAMA [Internet]. 2013;310(20):2191\u20134. https:\/\/doi.org\/10.1001\/jama.2013.281053","DOI":"10.1001\/jama.2013.281053"}],"container-title":["BMC Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12887-024-04690-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12887-024-04690-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12887-024-04690-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T05:06:11Z","timestamp":1710738371000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcpediatr.biomedcentral.com\/articles\/10.1186\/s12887-024-04690-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,18]]},"references-count":18,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["4690"],"URL":"https:\/\/doi.org\/10.1186\/s12887-024-04690-6","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-3276242\/v1","asserted-by":"object"}]},"ISSN":["1471-2431"],"issn-type":[{"value":"1471-2431","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,18]]},"assertion":[{"value":"18 August 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 March 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 March 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors affirm their adherence to the Helsinki Declaration\u2019s guiding principles [\n                      \n                      ], and strict anonymization precautions were taken.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The patient\u2019s parents provided written informed consent for the publication of this case report and any accompanying images.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"194"}}