Search

In this paper we report a review of the omphalic pathology that was admitted to our hospital from january 1973 through december 1990. Eleven cases of Beckwith-Wiedemann Syndrome were diagnosed during this period of time. Our eleven cases comply with at least three of the four major criteria (omphalocele, macroglossia, gigantism and neonatal hypoglycemia) and several of the minor criteria. The interest of this paper is based on the rareness of this syndrome and its association in two of our cases with Cacchi-Ricci Syndrome. Moreover, one of these cases later presented with a Wilms' tumor. Finally, we emphasize the importance of an early diagnosis of this syndrome in order to avoid the metabolic disturbances (hypoglycemia), to establish prompt treatment of the serious anomalies (omphalocele) and to control and follow these patients since they have increased risk to develop neoplastic disease.

Two new cases with familiar multiple intestinal atresia (MIA) are reported. Two consecutive siblings with MIA were referred to our pediatric surgical unit over the last year. The second child was diagnosed by means of a pre-delivery conducted ecography in the 28 week of pregnancy. In both cases an abdominal x-ray performed just after the delivery, proved the diagnosis of the first obstruction and suggested the MIA diagnosis. The treatment was surgical, fast; the child was operated on in his twenty four hours of life. The macroscopic malformations as well as the histological findings confirmed the MIA diagnosis, that is different from the classical pattern of MIA, called non hereditary. Therefore we can conclude that the familiar MIA with a possible hereditary pattern is grave enough to be recommended the need of an adequate genetic advice and in the future an intestinal transplant.

Twenty three cases of alterations of the epididymis-testicular union found in 1,000 children with cryptorchism are discussed. Anatomical and pathological findings are described and world literature on the subject is reviewed, finding very scanty references to this problem in spite of the fact that expected incidence of epididymis testicular non-junction is between 1 and 2% of the patients with cryptorchism.