Caroli Disease Associated With Vein of Galen Malformation in a Male Child abstract

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). Pediatrics 2014;134:e284–e288 AUTHORS: Dominik Grieb, MD,a Axel Feldkamp, MD,b Thomas Lang, MD,c Michael Melter, MD,d Christian Stroszczynski, MD,e Friedhelm Brassel, MD,a and Dan Meila, MDaf Departments of aRadiology, and Neuroradiology and bPediatrics, Klinikum Duisburg–Sana Kliniken, Duisburg, Germany; cDepartment of Pediatrics, Hospital Barmherzige Brüder Regensburg, Regensburg, Germany; Departments of dPediatrics, and eRadiology, University Medical Center Regensburg, Regensburg, Germany; and fDepartment of Diagnostic and Interventional Neuroradiology, Medical School Hannover, Hannover, Germany