P17.10: Newly described mutation in the SOS1 gene as a possible reason for generalized hydrops fetalis

Abstract

Introduction: Fetal subdural hematoma (SDH) is a rare event. With advances in obstetric ultrasound however it has been recognized that SDH may occur in utero before the onset of labor. We present a unique case of atraumatic SDH diagnosed in the second trimester. Case Report: A 31-year-old woman was referred to our institution for the investigation of a brain anomaly detected in an anomaly scan, at 22 weeks and 4 days of gestation. The woman had an uneventful pregnancy so far. A rounded hyperechogenic mass was detected in the posterior fossa, measuring about 2 cm, between the skull and the brain producing only a mild midline shift to the right. A strong suspicion of a fetal subdural hematoma was brought to mind among others. We suggested fetal brain MRI and this confirmed our suspicion of atraumatic spontaneous subdural hematoma of the posterior fossa. Medical consultation was given to the parents stating the scarcity of the condition and the poor prognosis that is referred to the literature. The parents chose the termination of the pregnancy, which took place with misoprostol leading to the delivery of a dead female fetus weighing 596 gr. The pathology report, confirmed the ultrasonographic and MRI diagnosis. Conclusion: Spontaneous fetal subdural hematoma is an extremely rare condition with a poor prognosis and it has never been reported before in literature to occur and be diagnosed at the time of the midtrimester scan. Ultrasound and other imaging techniques such as CT and MRI, and use of Doppler techniques for detecting cerebral hemodynamic abnormalities, might help in earlier diagnosis and perhaps lead to more accurate management and prognosis.