[Chorioangiomatosis: a rare etiology of nonimmune hydrops fetalis. Obstetric and pediatric implications for patient care]. / La chorioangiomatose : une cause rare d'anasarque foetoplacentaire non immune. Implications pratiques obstétrico-pédiatriques.

UNLABELLED: We report a case of chorioangiomatosis with hydrops fetalis as a complication. OBSERVATION: Hydrops fetalis associated with fetal distress led to preterm birth at 33 GW. Resuscitation was needed at birth. A systematic histologic exam showed diffuse chorioangiomatosis. There was no congenital hemangioma. COMMENTS: We describe the features of chorioangiomatosis, a rare cause of nonimmune hydrops fetalis. Prenatal diagnosis of chorioangiomatosis before early recognition of severe maternal and fetal complications during pregnancy is infrequent, thus precluding early management of the pregnancy. Reports of associated chorioangioma and infantile hemangioma are frequent, illustrated with a recent pathophysiological hypothesis involving embolism of a placental angioblast as for the cause of congenital hemangioma. Investigations for associated cutaneous or visceral infantile hemangioma should be undertaken when chorioangioma is diagnosed.

Fifteen years single center experience in the management of progressive familial intrahepatic cholestasis of infancy.

Recent advances in genetics and in physiopathology of bile composition and excretion have clarified the understanding of progressive familial intrahepatic cholestasis (PFIC). The aim of the present study is to review the experience of our center in terms of diagnosis, management and outcome of 49 pediatric PFIC patients, belonging to the three classical subtypes described. We analyse the clinical, biological, and histological patterns and review the response to the medical and surgical treatment and the global outcome. The only clinical difference between the different subtypes of PFIC patients was the intensity of pruritus. Serum gamma-glutamyltransferase (GGT) and liver histology allowed to differentiate PFIC III from PFIC I and II patients. High levels of biliary bile acids in 2 low-GGT patients was associated with favourable outcome. Response to ursodeoxycholic acid (UDCA) varies from patient to patient and was not associated to a particular subtype of PFIC. In five patients of this cohort, external biliary diversion was performed without improvement. Transplantation is indicated whenever medical treatment fails to restore normal social life, growth and well being of the child and it is associated with excellent survival (> 90%).