{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,13]],"date-time":"2025-06-13T14:08:06Z","timestamp":1749823686655},"reference-count":11,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,5,11]],"date-time":"2024-05-11T00:00:00Z","timestamp":1715385600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,5,11]],"date-time":"2024-05-11T00:00:00Z","timestamp":1715385600000},"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><jats:sec>\n                <jats:title>Introduction<\/jats:title>\n                <jats:p>Donohue syndrome (DS), also referred to as leprechaunism, is a remarkably uncommon autosomal recessive disorder that primarily affects the endocrine system. Its incidence rate is exceedingly low, with only 1 case reported per 4\u00a0million live births. The syndrome is distinguished by a series of characteristic clinical features.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We present a case of a twenty-month-old male with DS who experienced a range of dysmorphic and clinical features with the involvement of multiple systems. These features include skin hyperpigmentation, hypertrichosis, distinct facial features, abdominal distension, and microcephaly, with the involvement of the endocrine, renal, respiratory, and cardiac systems.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>The primary features of DS involve severe insulin resistance and growth abnormalities, the association with pulmonary hypertension (PHTN) has not been reported before. This finding adds more complexity to the condition. To the best of the author\u2019s knowledge, this is the first report for a patient with DS who has PHTN. Further investigation is required since the mechanisms behind the development of PHTN in DS are not entirely understood. Shedding light on this association will contribute to better management strategies and outcomes for affected patients.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12887-024-04714-1","type":"journal-article","created":{"date-parts":[[2024,5,21]],"date-time":"2024-05-21T17:01:52Z","timestamp":1716310912000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["\u201cAn unprecedented occurrence: a case report of pulmonary hypertension manifestation in Donohue syndrome\u201d"],"prefix":"10.1186","volume":"24","author":[{"given":"Ahmed Shamil","family":"Hashim","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mustafa Najah","family":"Al-Obaidi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmed Dheyaa","family":"Al-Obaidi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saleh Abdulkareem","family":"Saleh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hashim Talib","family":"Hashim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mina","family":"Al Saeedi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Basma","family":"Ataallah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,5,11]]},"reference":[{"issue":"6","key":"4714_CR1","doi-asserted-by":"publisher","first-page":"e2710","DOI":"10.1097\/MD.0000000000002710","volume":"95","author":"Y Nijim","year":"2016","unstructured":"Nijim Y, Awni Y, Adawi A, Bowirrat A. Classic Case Report of Donohue Syndrome (Leprechaunism; OMIM *246200): the impact of Consanguineous mating. Med (Baltim). 2016;95(6):e2710. https:\/\/doi.org\/10.1097\/MD.0000000000002710.","journal-title":"Med (Baltim)"},{"issue":"1","key":"4714_CR2","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1111\/pan.13273","volume":"28","author":"A Kirkwood","year":"2018","unstructured":"Kirkwood A, Stuart G, Harding L. Donohue syndrome: a review of literature, case series, and anesthetic considerations. PaediatrAnaesth. 2018;28(1):23\u20137. https:\/\/doi.org\/10.1111\/pan.13273.","journal-title":"PaediatrAnaesth"},{"issue":"1","key":"4714_CR3","doi-asserted-by":"publisher","first-page":"100","DOI":"10.4103\/njms.NJMS_55_20","volume":"12","author":"SR Joshi","year":"2021","unstructured":"Joshi SR, Pendyala GS, Shah P, Pustake B, Mopagar V, Padmawar N. Severe insulin resistance syndrome - A rare case report and review of literature. Natl J MaxillofacSurg. 2021;12(1):100\u20135. https:\/\/doi.org\/10.4103\/njms.NJMS_55_20.","journal-title":"Natl J MaxillofacSurg"},{"issue":"4","key":"4714_CR4","first-page":"226","volume":"52","author":"B Kirel","year":"2017","unstructured":"Kirel B, Bozda\u011f \u00d6, K\u00f6\u015fger P, Aydo\u011fdu SD, Al\u0131ncak E, Tekin N. A case of Donohue syndrome leprechaunism with a novel mutation in the insulin receptor gene. Turkish Archives Pediatrics\/T\u00fcrkPediatriAr\u015fivi. 2017;52(4):226.","journal-title":"Turkish Archives Pediatrics\/T\u00fcrkPediatriAr\u015fivi"},{"issue":"1","key":"4714_CR5","doi-asserted-by":"publisher","first-page":"20210087","DOI":"10.1515\/crpm-2021-0087","volume":"12","author":"KA Metwalley","year":"2022","unstructured":"Metwalley KA, Farghaly HS, Maxi LM. Donohue syndrome in an Egyptian infant: a case report. Case Rep Perinat Med. 2022;12(1):20210087.","journal-title":"Case Rep Perinat Med"},{"issue":"5","key":"4714_CR6","doi-asserted-by":"publisher","first-page":"855","DOI":"10.1016\/j.yjmcc.2008.03.008","volume":"44","author":"BJ DeBosch","year":"2008","unstructured":"DeBosch BJ, Muslin AJ. Insulin signaling pathways and cardiac growth. J Mol Cell Cardiol. 2008;44(5):855\u201364.","journal-title":"J Mol Cell Cardiol"},{"issue":"4","key":"4714_CR7","doi-asserted-by":"publisher","first-page":"815","DOI":"10.1017\/S1047951115002437","volume":"26","author":"JU Termote","year":"2016","unstructured":"Termote JU, Breur JM, de Vroede MA. Hypertrophic cardiomyopathy in Donohue syndrome. Cardiol Young. 2016;26(4):815\u20138.","journal-title":"Cardiol Young"},{"key":"4714_CR8","doi-asserted-by":"publisher","first-page":"616720","DOI":"10.3389\/fmed.2020.616720","volume":"7","author":"M Al-Qadi","year":"2021","unstructured":"Al-Qadi M, LeVarge B, Ford HJ. Epidemiology, pathogenesis, and clinical approach in group 5 pulmonary hypertension. Front Med. 2021;7:616720.","journal-title":"Front Med"},{"issue":"6","key":"4714_CR9","doi-asserted-by":"publisher","first-page":"850","DOI":"10.1038\/s41390-020-01113-x","volume":"88","author":"M Griffiths","year":"2020","unstructured":"Griffiths M, Yang J, Nies M, Vaidya D, Brandal S, Williams M, Matsui EC, Grant T, Damico R, Ivy D, Austin ED. Pediatric pulmonary hypertension: insulin-like growth factor-binding protein 2 is a novel marker associated with disease severity and survival. Pediatr Res. 2020;88(6):850\u20136.","journal-title":"Pediatr Res"},{"issue":"1","key":"4714_CR10","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1210\/jcem-54-1-131","volume":"54","author":"RA Rizza","year":"1982","unstructured":"Rizza RA, Mandarino LJ, Gerich JE. 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Ethical registration number is WKRI\/005\/2023 obtained on 4th of April, 2023. The patient parents were informed about the nature of the study and were voluntarily willing to participate in the study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"A written informed consent was obtained from the legal guardians of the patient to participate in the study and publish identifiable images and information of the patient for research purposes in online resources.","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":"327"}}