Fetal brain small vessel disease 1 caused by a novel mutation in the COL4A1 gene.

A singleton fetus was referred to fetal magnetic resonance imaging (MRI) at 25 weeks due to mild ventriculomegaly and an abnormal fetal echocardiogram showing cardiomegaly, right ventricular hypertrophy and tricuspid insufficiency. Patchy areas of ischemic infarction, extensive subacute and chronic hemorrhage not respecting vascular territories, encephaloclastic cysts and closed lip schizencephaly were identified. Cataract was detected postnatally. The anomalies were caused by a pathogenic mutation (c.353 G>A; p.G118D) in the COL4A1 gene. The phenotype seen in this case, i.e. small vessel cerebral disease with or without ocular anomalies caused by COL4A1 mutations, is likely an underrecognized cause of perinatal stroke. The pattern of abnormalities reported herein should prompt strong consideration for diagnosis and molecular testing.

REBOA as a rescue strategy for catastrophic vascular injury during robotic surgery.

Catastrophic bleeding is a feared complication of robotic abdominal procedures that involve dissection in close proximity to major vessels. In the event of uncontrollable hemorrhage, standard practice involves emergency undocking with conversion to laparotomy. Resuscitative endovascular balloon occlusion of the aorta (REBOA) is a rapid and life-saving technique gaining acceptance in the trauma setting for the management of catastrophic hemorrhage. The purpose of this study was to evaluate feasibility of REBOA for emergency hemostasis during robotic surgery. The surgical robot was docked to a REBOA mannequin to simulate an upper abdominal surgery. A femoral arterial line was placed in the mannequin. Supplies needed for REBOA insertion were opened and arranged on the surgical back table. The surgeon was seated at the console with an assistant scrubbed. A catastrophic vascular injury was announced. The time it took the surgeon to achieve aortic occlusion by the REBOA was recorded. Four surgeons participated and performed three timed trials each. Each surgeon, irrespective of experience with REBOA or years in surgical practice, was able to obtain aortic occlusion in less than 2 min. The mean time to aortic occlusion for all surgeons was 111 s. No manipulation of the robotic arms was required to perform the procedure. Aortic occlusion was achieved rapidly with REBOA. Ability to achieve prompt aortic control was not associated with surgical experience or prior familiarity with the REBOA device. Prophylactic femoral access and preparation of supplies facilitates prompt placement of the occlusion balloon. REBOA should be considered as a viable alternative to open laparotomy for temporary hemorrhage control during robotic surgery.