{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,8]],"date-time":"2025-06-08T08:21:31Z","timestamp":1749370891466,"version":"3.37.3"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,12,11]],"date-time":"2020-12-11T00:00:00Z","timestamp":1607644800000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Pregnancy Childbirth"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>May-Hegglin anomaly is an autosomal dominant inherited condition, characterized by thrombocytopenia, giant platelets and Dohle-like bodies. Incidence is unknown and affected individuals can show from mild to moderate-severe haemorrhagic symptoms. The cyst of cavum veli interpositi (a virtual space filled with fluid within the third ventricle) is rarely reported in the foetal period. Furthermore, it is unclear whether isolated cavum veli interpositi cysts are a normal variant or developmental malformations. The simultaneous presence of these two anomalies was never described.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We describe a very rare case of a twin monochorionic pregnancy in a woman with the May-Hegglin anomaly, whose foetuses carried cavum veli interpositi cysts. Since childhood, our patient had shown macro-thrombocytopenia, deafness and bleeding (epistaxis and menorrhagia), but she was misdiagnosed until the age of 30\u2009years when our Centre identified a de novo allelic variant in the gene MYH9 coding for the non-muscle myosin heavy chain IIa. Our patient bled neither during the pregnancy, nor in the peripartum period. Children are now eight-months-old and have never bled, although both inherited the MYH9 variant and have thrombocytopenia with giant platelets. Furthermore, none of them developed psychomotor disorders.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>To the best of our knowledge, this is the sixth case of twin pregnancy in a woman carrying May-Hegglin anomaly and the first one with cavum veli interpositi cysts in the neonates. We speculate that MYH9 could have, at least in part, played a role in the development of both conditions, as this gene has a pleiotropic effect.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12884-020-03437-2","type":"journal-article","created":{"date-parts":[[2020,12,11]],"date-time":"2020-12-11T12:18:49Z","timestamp":1607689129000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["The curious incident of a cavum velum interpositum cyst in twins of a mother carrying May-Hegglin anomaly: a case report and short literature review"],"prefix":"10.1186","volume":"20","author":[{"given":"Giulio","family":"Giordano","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni L.","family":"Tiscia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Favuzzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Chinni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariano","family":"Intrieri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario","family":"Mastroianno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Letizia","family":"Di Meglio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurizio","family":"Margaglione","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8980-9783","authenticated-orcid":false,"given":"Elvira","family":"Grandone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,12,11]]},"reference":[{"key":"3437_CR1","unstructured":"Hegglin R. Gleichzeitige konstitutionelle Veranderungen an Neutrophilen und Thrombozyten. Helv Med Acta. 1945."},{"key":"3437_CR2","doi-asserted-by":"publisher","first-page":"1387","DOI":"10.3324\/haematol.2014.105924","volume":"99","author":"P Noris","year":"2014","unstructured":"Noris P, Schlegel N, Klersy C, Heller PG, Civaschi E, Pujol-Moix N, et al. Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia. Haematologica. 2014;99:1387\u201394. https:\/\/doi.org\/10.3324\/haematol.2014.105924.","journal-title":"Haematologica."},{"key":"3437_CR3","doi-asserted-by":"crossref","unstructured":"Hussein BA, Gomez K, Kadir RA. May-Hegglin anomaly and pregnancy: a systematic review. Blood Coagul Fibrinolysis. 2013.","DOI":"10.1097\/MBC.0b013e32835fad03"},{"key":"3437_CR4","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1002\/uog.6419","volume":"34","author":"V D\u2019Addario","year":"2009","unstructured":"D\u2019Addario V, Pinto V, Rossi AC, Pintucci A, Di Cagno L. Cavum veli interpositi cyst: prenatal diagnosis and postnatal outcome. Ultrasound Obstet Gynecol. 2009;34:52\u20134. https:\/\/doi.org\/10.1002\/uog.6419.","journal-title":"Ultrasound Obstet Gynecol"},{"key":"3437_CR5","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1002\/uog.19899","volume":"52","author":"B Moradi","year":"2018","unstructured":"Moradi B, Kia K, Rahmani M, Kazemi M, Tahmasebpour AR. EP08.14: Cavum velum interpositum cysts in normal and anomalous fetuses in second trimester of pregnancy: comparison of its size and incidence. Ultrasound Obstet Gynecol. 2018;52:225.","journal-title":"Ultrasound Obstet Gynecol"},{"key":"3437_CR6","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1016\/j.tjog.2018.03.002","volume":"57","author":"B Feng","year":"2018","unstructured":"Feng B, Zhai J, Cai Y. Effect of twin pregnancy chorionic properties on maternal and fetal outcomes. Taiwan J Obstet Gynecol. 2018;57:351\u20134. https:\/\/doi.org\/10.1016\/j.tjog.2018.03.002.","journal-title":"Taiwan J Obstet Gynecol"},{"key":"3437_CR7","unstructured":"Landy HJ, Gumer A, Ludomirsky A, Reilly R. The May-Hegglin anomaly in pregnancy. A case report. J Reprod Med Obstet Gynecol. 1987."},{"key":"3437_CR8","doi-asserted-by":"publisher","first-page":"1603","DOI":"10.1213\/ane.0b013e31819d1e71","volume":"108","author":"EB Fishman","year":"2009","unstructured":"Fishman EB, Connors JM, Camann WR. Anesthetic management of seven deliveries in three sisters with the may-hegglin anomaly. Anesth Analg. 2009;108:1603.","journal-title":"Anesth Analg"},{"key":"3437_CR9","unstructured":"Duff P, Jackson MT. Pregnancy complicated by rhesus sensitization and the May-Hegglin anomaly. Obstet Gynecol. 1985."},{"key":"3437_CR10","doi-asserted-by":"crossref","unstructured":"Kotelko DM. Anaesthesia for caesarean delivery in a patient with may-Hegglin anomaly. Can J Anaesth. 1989.","DOI":"10.1097\/00132582-198910000-00069"},{"key":"3437_CR11","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1159\/000445718","volume":"40","author":"A Youssef","year":"2016","unstructured":"Youssef A, D\u2019Antonio F, Khalil A, Papageorghiou AT, Ciardulli A, Lanzone A, et al. Outcome of fetuses with Supratentorial extra-axial intracranial cysts: a systematic review. Fetal Diagn Ther. 2016;40:1.","journal-title":"Fetal Diagn Ther"},{"key":"3437_CR12","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1016\/j.ydbio.2014.10.017","volume":"397","author":"JH Gutzman","year":"2015","unstructured":"Gutzman JH, Sahu SU, Kwas C. Non-muscle myosin IIA and IIB differentially regulate cell shape changes during zebrafish brain morphogenesis. Dev Biol. 2015;397:103\u201315.","journal-title":"Dev Biol"}],"container-title":["BMC Pregnancy and Childbirth"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12884-020-03437-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s12884-020-03437-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12884-020-03437-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,12,11]],"date-time":"2020-12-11T12:24:30Z","timestamp":1607689470000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcpregnancychildbirth.biomedcentral.com\/articles\/10.1186\/s12884-020-03437-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["3437"],"URL":"https:\/\/doi.org\/10.1186\/s12884-020-03437-2","relation":{},"ISSN":["1471-2393"],"issn-type":[{"type":"electronic","value":"1471-2393"}],"subject":[],"published":{"date-parts":[[2020,12]]},"assertion":[{"value":"27 August 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 November 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 December 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Not applicable.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"772"}}