Expending the Phenotypic Spectrum of Encephalocraniocutaneous Lipomatosis: About a Prenatal Case With Complete Autopsy.

Encephalocraniocutaneous lipomatosis (ECCL) or Haberland syndrome (MIM #613001) is a rare congenital neurocutaneous disorder. It is characterized by unilateral ocular, cutaneous and central nervous system anomalies. Key clinical features include hairless fatty tissue nevus of the scalp, choristoma of the eye and intraspinal and intracerebral lipomas. We report one of the first cases diagnosed after termination of pregnancy at 35 WG, including antenatal and post-mortem imaging, complete autopsy and genetic analysis. Prenatal ultrasound and MRI of the third trimester showed multifocal spinal lesions and left lateral cerebral ventriculomegaly with cerebral atrophy. Diagnosis of ECCL was suggested at complete autopsy which revealed nevus psiloliparus of the scalp, facial hamartomas and intracranial and spinal lipomas. In addition, our case also exhibited a cardiac rhabdomyoma and a multicystic dysplastic kidney, both never reported to date in this syndrome. ECCL was confirmed by the identification of a postzygotic FGFR1 mutation. We reviewed the literature and discuss the pathogenesis of this syndrome.

Intra pelvic spontaneous rotation of persistent occiput posterior position in case of operative vaginal delivery with spatulas.

OBJECTIVES: In 5 % of vaginal deliveries in case of cephalic presentation there is a persistent occipital posterior position known to be associated with a higher maternal and neonatal morbidity. In these situations, vacuum extractor seems to be the best choice for assisted delivery but it also has limits and contraindications, for example an important caput succadenum or premature birth. The aim of our study was to evaluate the rate of intra-pelvic rotation of persistent occipital posterior position without instrumental rotation in case of operative delivery with spatulas. METHODS: This is a retrospective, monocentric and descriptive study evaluating the rate of spontaneous intra-pelvic rotation of persistent occipital posterior position in case of assisted delivery with spatulas among all live births at the Besançon University Medical Center between 2010 and 2017. RESULTS: There were 20 205 births during the study and 81(0,4 %) operative deliveries by spatulas in case of persistent occipital posterior position. Delivery in occiput anterior (OA) position was obtained in 36 cases (44.4 %). There was no significant difference in maternal or neonatal morbidity between both groups and perineum injuries were less severe in case of OA delivery. CONCLUSION: Operative deliveries by spatulas without instrumental rotation in case of persistent occipital-posterior position seem to be a relevant alternative to vacuum extractor, especially in case of premature birth or important caput succedaneum without altering the maternal or neonatal prognostic.