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Acute lymphoblastic congenital leukemia as a cause of perinatal death following massive cerebral hemorrhage

Abstract Background Congenital leukemia is a rare condition and most commonly found in infants with Down syndrome. The occurrence in newborns without a genetically predisposing syndrome is extremely infrequent. Highlights We describe a case of peripartal fetal death at 30 weeks and 4 days of gestation. Emergency cesarean section was performed after a previously uncomplicated pregnancy because of pathologic fetal heart rate tracing and suspected intracranial hemorrhage on ultrasound imaging. Resuscitation of the newborn was unsuccessful and stopped after 30 min, when ultrasound of the fetus confirmed very severe intracranial and intraabdominal bleeding. Autopsy was performed after informed consent and demonstrated evidence of acute lymphoblastic leukemia in the bone marrow, associated with wide spread visceral involvement. Conclusion Perinatal fetal demise due to congenital leukemia is exceedingly rare and can occur unexpectedly in the third term after a normal pregnancy. We here report the clinical and pathologic findings, discuss the pathogenesis of fetal leukemia and its clinical manifestations along with a thorough review of the relevant literature.