CASE REPORT Spontaneous thrombosis of a vein of Galen malformation associated with acute sinusitis: a case report Luis Fernando Pulido 1 & Diana Murcia Salazar 2 & Diego Gómez Amarillo 3 & Juan Nicolás Useche 4 & Kemel A. Ghotme 3,5 Received: 15 November 2020 /Accepted: 4 February 2021 # Springer-Verlag GmbH Germany, part of Springer Nature 2021 Abstract The vein of Galen malformation is caused by an abnormal shunting between choroidal arteries and the median prosencephalic vein during embryological development, leading to increased blood flow to the deep cerebral veins, intracranial damage, and systemic repercussions. Idiopathic spontaneous thrombosis of a vein of Galen malformation is rare, and its association with acute sinusitis has not been reported in the literature. We present the case of a girl with a postnatal diagnosis of a vein of Galen malformation at the age of 16 months, with secondary pulmonary hypertension that was adequately controlled with spironolactone. At 3 years old, while expecting elective endovascular treatment, the patient developed spontaneous thrombosis of the vein of Galen malformation, concomitant to an acute sinusitis episode, with complete resolution of the vascular malfor- mation and secondary pulmonary hypertension. The patient continued with normal neurological development over a 5-year follow-up. We discuss the main pathophysiologic mechanisms that can explain spontaneous thrombosis of VOGMs and the patient’s outcome. Awareness of different mechanisms that can lead to spontaneous thrombosis can help in the decision-making process and prompt targeted approaches to individual patients with a vein of Galen malformation. Keywords Vein of Galen malformation . Arteriovenous malformation . Aneurysm . Spontaneous thrombosis . Acute sinusitis . Pulmonary hypertension . Case report Introduction The vein of Galen malformation (VOGM) is an uncommon vascular malformation, representing 1% of all cerebral vascular malformations. Among pediatric patients, it comprises up to 30% of vascular malformations [1]. The incidence is approxi- mately 1 in 25,000 live births [2]. This entity consists of anom- alous high flow arteriovenous shunts between choroidal arteries and the median prosencephalic vein of Markowski, which occurs between the 6th and 11th weeks of gestational age [3]. The molecular pathophysiology is not entirely understood. However, Duran et al., through exome sequencing of 55 VOGM probands, described mutations in crucial chromatin modifier genes for brain and vascular growth [4]. Additionally, they discovered mutations in Ephrin signaling genes and other mutations that account for 30% of total VOGM cases [4]. Lasjaunias et al. classify VOGMs in choroidal and mural types [5]. Choroidal VOGMs receive vascular supply from * Kemel A. Ghotme kemelgg@unisabana.edu.co Luis Fernando Pulido luisfepcadavid@gmail.com Diana Murcia Salazar dianismurcia@gmail.com Diego Gómez Amarillo diegogomezncx@gmail.com Juan Nicolás Useche jnuseche@gmail.com 1 Faculty of Medicine, Universidad de los Andes, Cra 1 N° 18A - 12, Bogotá, Colombia 2 Department of Radiology, Lahey Hospital and Medical Center, 41 Mall Road, Burlington, MA, USA 3 Department of Neurosurgery, Fundación Santafé de Bogotá, Carrera 7 No. 117 – 15, Bogotá, Colombia 4 Radiology and Diagnostic Imaging Department, Fundación Santa Fe de Bogotá, Carrera 7 No. 117 – 15, Bogotá, Colombia 5 Translational Neuroscience Research Lab, Universidad de La Sabana, Autopista Norte, KM 7, Chía, Colombia 250001 Child's Nervous System https://doi.org/10.1007/s00381-021-05072-4