[Charge syndrome: long-term survival. Report of a case]. / Sindrome di Charge: sopravvivenza a lungo termine. Descrizione di un caso.

Charge association is a relatively rare pattern of congenital anomalies whose incidence is approximately 1:10.000. We describe our experience on a young boy (Cariotype 46-XY) with associated oesophageal atresia survived up to 12 years. We analyse the most relevant difficulties occurred in the treatment of this patient and we underline the importance of performing an early tracheostomy in order to improve the respiratory impairment. The management of this multiple complex malformations requests a multidisciplinary approach during the life.

Carcinoid tumors of the appendix in children.

We report ten cases of carcinoid tumor of the appendix observed in children from 1988 to 1996. The patients included six females and four males with an average age of 13 years at presentation. They were admitted after complaining of pain in the lower abdominal quadrant. In eight children who presented with symptoms of acute appendicitis, the tumor was located at the tip of the appendix. Diagnosis was performed after appendicectomy (AE) and pathologic examination, which revealed a tumor slightly under 1 cm in size. Two other children were admitted with clinical signs of peritonitis due to larger tumors measuring more than 2 cm on the base of the appendix. One patient underwent a cecectomy, the other a right hemicolectomy. For all patients follow-up was 3 years, and all recovered fully. According to these findings and a review of the literature, we suggest conservative surgical procedures in children. More than 70% of these tumors are localized at the tip of the appendix and represent an incidental pathologic finding during AE; AE alone is curative. Patients with a bulky tumor of the appendicular base measuring 2 cm and invading the serosa and mesoappendix without metastases may be treated with a cecectomy; ileocecal resection may be indicated in cases where the tumor has infiltrated tissue beyond the cecum with localized metastases and in patients with incomplete gross resection. Right hemicolectomy is questionable in this age group and restricted to rare conditions.

Prenatal management of inherited urogenital malformation: case report.

Documentation of unique kidney renal function early in pregnancy can be helpful in defining prenatal management and therefore in improving prognosis. Antenatal diagnosis of a solitary kidney was performed at 20 weeks' gestation in a foetus with a 1,7 chromosome translocation. Because of the decreasing renal function and the increasing pelvic dilatation, an early in utero stenting was placed at 23 weeks' gestation. Optimal outcome occurred and the baby was delivered at 32 weeks. Complete assessment of the malformation showed a left hydronephrosis due to a megaureter, right renal agenesis with ipsilateral cryprorchidism and agenesis of the right vas deferens. The chromosomic translocation was inherited from the mother who was affected by uterus didelphys, obstructed right hemivagina and right renal agenesis. Renal function of the unique kidney with hydronephrosis can be early diagnosed and promptly treated. This condition should also increase the index of suspicion of underlying genital and chromosomal anomalies.

[Intestinal invagination in childhood: our experience]. / Invaginazione intestinale in età pediatrica: esperienza personale.

The Authors report their experience in the treatment of twenty-one patients with intussusception operated in the Paediatric Surgery Division ASL FG/3 between January 1988 and December 1994. Eighty-nine percent of the patients were between 2 and 12 months of age, with a peak between 2 and 6 months (60%). Ultrasound allowed to identify the pathological picture in forty-two percent of the cases and diagnosis was confirmed by barium enema. In 8 patients a pathology more or less responsible of the intussusception or associated with it was detected. The time between the onset of symptoms and admission as well as the relation between intestinal resection and duration of symptomatology were analyzed. The resection rate was maximal (55%) in those patients presenting symptoms beyond 25 hours. Intestinal resection was performed in 9 patients (47%): 6 ileo-colic; 1 ileo-colic resection extended to the splenic flexure; and 2 ileo-ileal ones. In this series no postoperative complications or recurrences or deaths were registered. Long term results proved that ileo-colic resection, even in few-months old infants, is well tolerated.

[Meckel's diverticulum in childhood. The authors' own experience]. / Diverticolo di Meckel in età pediatrica. Esperienza personale.

Meckel's diverticulum occurs in approximately 2 percent of the population and may present at any age. Although Meckel's diverticulum may produce an intestinal obstruction or perforation, simulating an appendicitis, hemorrhage is its most important clinical presentation. From 1989 to 1994, Meckel's diverticulum was discovered in ten children at laparotomy. Three cases were asymptomatic, representing an incidental finding at laparotomy. Of the seven symptomatic patients, four presented with bowel obstruction (intussusception), three had rectal bleeding one of whom had diverticulitis. Contrast studies--in gastrointestinal hemorrhage--were not helpful in establishing the diagnosis; colonoscopy and gastroscopy ruled out other causes of bleeding. Five of seven symptomatic patients had an intestinal resection while two a diverticulectomy after assessment that the ulcer did not require resection. No postoperative morbidity and mortality is reported in either groups. A Meckel's diverticulum found incidentally at laparotomy should be always resected as the risk of complication is high and that of resection low.