{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T12:42:30Z","timestamp":1780058550692,"version":"3.54.0"},"reference-count":20,"publisher":"American Academy of Pediatrics (AAP)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,7,1]]},"abstract":"<jats:p>We report the first case of a male child with both Caroli disease and vein of Galen malformation. The neonate presented to our department with congestive heart failure as a result of the intracranial arteriovenous high-flow shunt. Over time, several endovascular embolizations led to a complete angiographic occlusion of the shunt. Additionally, the diagnosis of Caroli disease was made at the age of 2 months. He developed choledocholithiasis necessitating endoscopic sphincterotomy and stone extraction. As a prolonged medical treatment he received ursodeoxycholic acid and antibiotics. A coincidence of Caroli disease and vein of Galen malformation has not yet been described. Both diseases are very rare, leading to the question of whether there is a link in the pathogenesis. Based on the few previously described underlying mechanisms, we develop hypotheses about the relationship between both rare diseases. We consider overexpression of vascular endothelial growth factor and its receptors as a possible common molecular mechanism in their pathogenesis. We also highlight the critical role of increased expression of the Notch ligand Jagged 1 both in the development of cerebral arteriovenous malformations in general and in the formation of dilated intrahepatic bile ducts (eg, in Caroli disease).<\/jats:p>","DOI":"10.1542\/peds.2013-0747","type":"journal-article","created":{"date-parts":[[2014,6,24]],"date-time":"2014-06-24T04:38:54Z","timestamp":1403584734000},"page":"e284-e288","source":"Crossref","is-referenced-by-count":5,"title":["Caroli Disease Associated With Vein of Galen Malformation in a Male Child"],"prefix":"10.1542","volume":"134","author":[{"given":"Dominik","family":"Grieb","sequence":"first","affiliation":[{"name":"Departments of Radiology, and Neuroradiology and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Axel","family":"Feldkamp","sequence":"additional","affiliation":[{"name":"Pediatrics, Klinikum Duisburg\u2013Sana Kliniken, Duisburg, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Lang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hospital Barmherzige Br\u00fcder Regensburg, Regensburg, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Melter","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Stroszczynski","sequence":"additional","affiliation":[{"name":"Radiology, University Medical Center Regensburg, Regensburg, Germany; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Friedhelm","family":"Brassel","sequence":"additional","affiliation":[{"name":"Departments of Radiology, and Neuroradiology and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Meila","sequence":"additional","affiliation":[{"name":"Departments of Radiology, and Neuroradiology and"},{"name":"Department of Diagnostic and Interventional Neuroradiology, Medical School Hannover, Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2014,7,1]]},"reference":[{"issue":"8\/2","key":"2021121000385050000_B1","first-page":"488","article-title":"Congenital polycystic dilation of the intrahepatic bile ducts; attempt at classification","volume":"34","author":"Caroli","year":"1958","journal-title":"Sem Hop"},{"issue":"13","key":"2021121000385050000_B2","doi-asserted-by":"crossref","first-page":"1934","DOI":"10.3748\/wjg.v13.i13.1934","article-title":"Clinical characteristics of Caroli\u2019s syndrome.","volume":"13","author":"Yonem","year":"2007","journal-title":"World J Gastroenterol"},{"issue":"2","key":"2021121000385050000_B3","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1007\/BF00698838","article-title":"Aneurysms of the vein of Galen: embryonic considerations and anatomical features relating to the pathogenesis of the malformation.","volume":"31","author":"Raybaud","year":"1989","journal-title":"Neuroradiology"},{"issue":"5","key":"2021121000385050000_B4","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1227\/00006123-198705000-00013","article-title":"Vein of Galen malformation: diagnosis and management.","volume":"20","author":"Johnston","year":"1987","journal-title":"Neurosurgery"},{"issue":"5","key":"2021121000385050000_B5","doi-asserted-by":"crossref","first-page":"888","DOI":"10.1016\/j.surg.2005.05.002","article-title":"Caroli\u2019s disease: liver resection and liver transplantation. 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