Bedside surgery in the newborn infants: survey of the Italian society of pediatric surgery.

INTRODUCTION: This is the report of the first official survey from the Italian Society of Pediatric Surgery (ISPS) to appraise the distribution and organization of bedside surgery in the neonatal intensive care units (NICU) in Italy. METHODS: A questionnaire requesting general data, staff data and workload data of the centers was developed and sent by means of an online cloud-based software instrument to all Italian pediatric surgery Units. RESULTS: The survey was answered by 34 (65%) out of 52 centers. NICU bedside surgery is reported in 81.8% of the pediatric surgery centers. A lower prevalence of bedside surgical practice in the NICU was reported for Southern Italy and the islands than for Northern Italy and Central Italy (Southern

NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different Outcomes.

NR5A1 (nuclear receptor subfamily 5 group A member 1) is a transcriptional regulator of adrenal and gonadal development and function. Heterozygous and homozygous NR5A1 mutations have been described in people with 46,XY disorders of sex development (DSD). The clinical, endocrine, and genetic features of four 46,XY subjects with NR5A1 genetic variants (2 sisters, 2 boys) from 3 unrelated families are reported. All subjects presented with hypergonadotropic hypogonadism and abnormal pubertal progression. Markers of Sertoli cell function were more affected than those of Leydig cell function. Genetic investigation demonstrated the presence of different heterozygous NR5A1 genetic variants. In the boys, pathogenetic NR5A1 gene variants were found that had been previously reported. The 2 sisters carried a new genetic variant in exon 4, and in silico analysis and ACMG classification indicated its pathogenicity. The data confirmed that NR5A1 gene mutations may present with variable genital phenotypes. Anyway, reproductive function was always impaired. Any clinical or endocrine data seem to be unable to differentiate these patients from other 46,XY DSD cases, suggesting that molecular analysis must be warranted. In subjects with NR5A1 mutations, different decisions in sex assignment may permit satisfying somatic and psychological outcome, but any option requires hormonal substitutive therapy from adolescence onward.

Laparoscopic treatment of adrenal masses in children: Report of two cases and review of literature.

Laparoscopic adrenalectomy has become a common alternative to open surgery for the resection of adrenal lesions in adults: The advantages are to provide better exposure of the adrenal gland, diminish soft tissue dissection, decrease morbidity and postoperative pain; however, reporting on the laparoscopic adrenalectomy in paediatric patients has been limited. We present two cases of laparoscopic adrenalectomy performed at our institution in two children, for left adrenal neuroblastoma in a first patient with opsomyoclonus syndrome, and for a right incidentaloma in the second case. According to recent literature, our experience has demonstrated that the laparoscopic adrenalectomy is a feasible procedure in children with small, well-circumscribed adrenal masses: It can be used a safety to treat suspected benign and malignant adrenal masses in children, with minimal morbidity and short hospital stay. The lateral trans-peritoneal approach offers optimal visualisation and good outcomes in terms of minimal discomfort, rapid recovery and excellent cosmesis. However, in the paediatric field, the number of patients is limited, making the learning curve longer.

Solid pseudopapillary tumors of the pancreas. Case report and review of the literature.

UNLABELLED: Solid pseudopapillary tumors (SPTs) are classified among the rare malignant tumors but they usually appear as slowly growing and low-grade malignancy and also occur in children and adolescents. They are mostly detected incidentally, but may occasionally present with sudden pain or symptoms of compression of adjacent structures. We report the case of a 15-year-old girl having an SPT of the exocrine pancreas presenting with an upper abdominal mass following a slight trauma at the dancing school. Imaging investigation showed a fairly heterogeneous density consistent with an SPT arising from the body and the tail of the pancreas, adherent to the splenic vein. The patient underwent complete enucleation. The aim of this paper is to report and discuss this recent experience and also review the literature focusing some questions still debated on this intriguing topic. KEY WORDS: Children, Neoplasm, Pancreas, Solid pseudopapillary tumors.

Rare extragonadal teratomas in children: complete tumor excision as a reliable and essential procedure for significant survival. Clinical experience and review of the literature.

BACKGROUND: Extragonadal teratomas are rare tumors in neonates and infants and can sometimes show unusual, distinctive feature such as an unusual location, a clinical sometimes acute, presentation and a "fetiform" histotype of the lesion. We have extrapolated, from our entire experience of teratomas, 4 unusual cases, mostly operated as emergencies; 2 of them were treated just after birth. Aim of this paper is to report the clinical and pathological findings, to evaluate the surgical approach and the long-term biological behaviour in these cases, in the light of survival and current insights reported in the literature. MATERIAL AND METHODS: The Authors reviewed the most significant (Tables I and II) clinical, laboratory, radiologic, and pathologic findings, surgical procedures, early and long-term results in 4 children, 1 male and 3 females (M/F ratio: 1/3), suffering from extragonadal teratomas, located in the temporo-zygomatic region of the head (Case n. 1, Fig. 1), retroperitoneal space (Case n. 2, Fig. 2) ,liver (Case n. 3, Figg. 3-5), kidney (Case n. 4, Fig. 6, 7), respectively. Of the 4 patients, 2 were treated neonatally (1 T. of the head, 1 retroperitoneal T.) A prenatal diagnosis had already been made in 2 of the 4 patients, between the 2nd and 3rd trimester of pregnancy, All the infants were born by scheduled caesarean section in a tertiary care hospital and were the immediately referred to thew N.I.C.Us. Because of a mostly acute clinical presentation, the 4 patients were then referred to the surgical unit at different ages: 7 days, 28 days, 7 months, and 4 years respectively. The initial clinical presentation (Table II) was consistent with the site of the mass and/or its side effects. The 2 newborns (Case 1 and 2) both with a prenatally diagnosed mass located at the temporozygomatic region and in the abdominal cavite respectively, already displayed, at birth a mass with a tendency to further growth. The symptoms and signs described to the primary care physician by the parents of the 2 patients suffering from intra-abdominal tumours (Cases n. 3, 4) were: swelling of the epigastrium and left hypochondrium due to a progressively growing hard mass, without impairment of the general, conditions in case n.3 (teratoma of the liver),while recurrent abdominal pain lasting for the 5 months was described in case n.4(retroperitoneal teratoma), followed by the development of an evident hard mass occupying the entire abdomen. In this case the symptoms suddenly worsened, with acute pain extending to the entire abdomen, high fever (>39° C), polypnea, anemia, deterioration of the general conditions and a rapid further enlargement of the mass. Antibiotic therapy was ansuccessful. The young child underwent a radiologic investigation (Fig. 6) that showed a large calcified mass in the left retroperitoneal space, associated with pleural effusion, In all the patients except for the Case n. 3, emergency surgical management was required and, in accordance with recommended practice, the procedure was complete exeresis. RESULTS (TABLE I): All the 4 patients had an uneventful postoperative course. Clinical surveillance and tests of AFP and other markers were scheduled every 6 months for the first years and annually thereafter. At the current date they are alive, disease-free and have not suffered any recurrence with a follow-up as reported in Table I, of 7 years in case n. 2; 23 years in case n. 1; 42 years in case n. 3 and 36 years in case n. 4. CONCLUSIONS: Some extragonadal teratomas of childhood of may rarely arise in the solid organs (liver, kidney), in the retroperitoneal space or the cranio-facial region, and also show unique histotype childhood characteristics ("fetiform") which distinguish them from more common cases. Being congenital tumours, prenatal diagnosis by US scan is extremely important in order to organize proper perinatal care in appropriate facilities where it is possible to define the diagnosis and carry out emergency surgery. An emergency procedure is frequently dictated both by complications related to the mass eddect and by the need to define the histology of the whole mass rather than just small biopsy specimens, Some teratomatas can hide more or less extensive islands of immaturity signs of malignant transformation that are clinically evident. It should be remembered that high serum levels of alpha-fetoprotein and calcficationof the imaging study, that are usually pathognomonic elements for fiagnosis, nay be lacking in abdominal lesions. Moreover, some additional specific diagnostic problems can be faced by either the radiologist (differential diagnosis from acquired or congenital cystic lesions, identification of the primary site of origin in the liver kidney or retroperitoneal space). Or the histopathologist (exclusion of renal metastasis of a primary gonadal teratomas of a glomerular and tubular differentiation a Wilm's tumour). The prognosis is generally benign, although the AIEOP guideline pointed out that high levels of circulating markers, including AFP, in children affected by mature or immature teratomas, could indicate rhe presence of micro-foci of YST, marking them out as at high risk. The UKCCSG II and the SFOP indicates AFP values exceeding 10,000 ng/ml as the threshold identifying a group of patients with a severe prognosis. The treatment indicated is early, complete exeresis, followed by a careful, exstensive, microscopic examination, associated, if necessary, with adjuvant chemotherapy. Finally, to improve the prognosis, close, long-term clinical, laboratory and imaging surveillance is necessary, at shorter intervals during the first 5 years after the exeresis and annually thereafter.

Mediastinal teratomas in children. Case reports and review of the literature.

BACKGROUND: In the pediatric age, mediastinal teratomas are an infrequent observation, accounting for only 7%-11% of extragonadal teratomas. Mainly located in the anterior mediastinum arising from the thymic gland, or exceptionally, from ectopic thyroid tissue, they may rarely be observed in the posterior mediastinum, sometimes in a paravertebral position, simulating a neuroblastoma. The Authors have extrapolated, from their entire experience of teratomas, 3 cases, mostly operated as emergencies; 1 of them was treated just after birth. Aim of this paper is to report the clinical and pathologic findings, to evaluate the surgical approach and the long-term biological behaviour in these cases, in the light of survival and current insights reported in the literature. MATERIALS AND METHODS: The Authors reviewed the most significant clinical, laboratory, radiologic and pathologic findings, surgical procedures, and early and long-term results in 3 children, 2 males and 1 female, suffering from extragonadal teratomas, located in the mediastinum, treated immediately after birth. In 1 of them the lesion was prenatally diagnosed by US scanning between the 2nd and 3rd trimester of pregnancy. All the infants were born by scheduled caesarean section in a tertiary care hospital and were then immediately referred to the N.I.C.U. because of a mostly acute clinical presentation. The 3 patients were referred to the surgical unit at different ages, namely 2 days, 10 years and 12.5 years, respectively. The initial clinical presentation was consistent with the site of the mass and/or its side-effects. The first patient, a female newborn, presented a worsening condition of respiratory distress, immediately after birth, that required mechanical ventilation and stabilization of the vital signs. Likewise, the presentation of case No. 2 was acute with dyspnea associated with an upper airways infection. Instead, the initial symptoms in case No. 3 were subacute and non-specific, characterized by worsening pain at the right shoulder extending to the neck and homolateral arm. The patients underwent laboratory and radiologic investigations that confirmed the clinical diagnosis of teratoma on the basis of elevated AFP values in 2 cases only (Case No. 1 and No. 2), while calcifications were lacking at imaging in all 3 patients. Emergency surgical management was required and, in accordance with recommended practice, the procedure was complete exeresis. RESULTS: All the patients underwent close long-term clinical, laboratory and imaging surveillance at shorter intervals during the first 5 years after the exeresis and annually thereafter. At the present time they are alive, disease-free and have not suffered any recurrence and/or distant metastases, with a follow-up of 7, 30 and 3 years respectively. CONCLUSIONS: Some extragonadal teratomas of childhood may rarely arise in the mediastinum. Being congenital tumors, prenatal diagnosis by US scan is extremely important in order to organize proper perinatal care in appropriate facilities where it is possible to define the diagnosis, and equipped with appropriate tools to carry out emergency surgery at minimal risk and to prevent severe complications after birth. An emergency procedure is frequently dictated both by complications related to the mass effect, and by the need to define the histology of the whole mass rather than just small biopsy specimens. Some teratomas can hide more or less extensive islands of immaturity or signs of malignant transformation that are clinically evident. It should be noted that calcifications and high levels of AFP and/or beta-HCG, usually pathognomonic elements for diagnosis, may not always be evident during the diagnostic work-up in mediastinal lesions. The prognosis is generally benign, although the AIEOP 2004 guidelines pointed out that high levels of circulating markers, including AFP, in children affected by mature or immature teratomas would indicate the presence of micro-foci of YST, marking them out as at high risk. The UKCCSG II and the SFOP indicated AFP values exceeding 10,000 ng / ml as the threshold identifying a group of patients with a severe prognosis.The treatment indicated is early, complete exeresis, followed by a careful, extensive microscopic examination and associated, if necessary, with adjuvant chemotherapy. Finally, in accordance with recommended practice, close, long-term clinical, laboratory and imaging surveillance is necessary, at shorter intervals during the first 5 years after the exeresis.

Unusual presentation of sacrococcygeal teratomas and associated malformations in children: clinical experience and review of the literature.

BACKGROUND: Sacrococcygeal teratomas are the most common and best known extragonadal teratomas in neonates and infants, but they sometimes present unique, distinctive features unlike those commonly described, that can be considered exceptional and noteworthy. MATERIAL AND METHODS: The Authors reviewed the most significant (Table I, II) clinical, laboratory, radiological and pathologic findings, surgical procedure, and early and long-term results in 5 children, 2 males and 3 females, suffering from sacrococcygeal teratomas. Four of 5 patients were observed and managed in the neonatal age. A prenatal diagnosis had already been made in 2 of them between the 2nd and 3rd trimester of pregnancy. Two patients were also suffering from the Currarino syndrome associated with Hirschsprung's disease and other, multiple malformations and a cloacal anomaly with anal imperforation, respectively. This last developmental anomaly had been prenatally suspected at US scanning, which had demonstrated a severe sacral anomaly and a large abdominal mass with perineal extension and dilated bowel loops. All the infants were born by scheduled caesarean section in a tertiary care hospital and were then referred to the N.I.C.Us. because of a mostly acute clinical presentation, except for case N°4, who was referred at the age of 3.3 years. Laboratory and radiologic investigations confirmed the clinical diagnosis of teratoma on the basis of elevated AFP values and imaging findings. All patients underwent emergency surgical management, in accordance with recommended practice, consisting of complete exeresis of the tumor, including coccygectomy, in 3 of the 5 children. RESULTS: Of the 5 patients, the female newborn affected by the Currarino syndrome, associated with persistence of the common cloacal canal and anal imperforation, died two days after surgery, of cardiovascular and respiratory complications. All the other patients had an uneventful postoperative course. Two years after the first exeresis at birth, relapse was observed in case N° 3, with a malignant component, YST, anticipated by elevated AFP values but negative physical signs and a benign cystic imaging pattern. After adjuvant chemotherapy she underwent a second complete exeresis. So far, 3 years after the second surgery and 5 years after the diagnosis and first treatment, no local recurrence or distant metastases have occurred. The other 3 patients are also all alive, disease-free and with no signs of relapse or distant metastasis, after a follow-up ranging from 2 years to 28 years. None of the 3 cases treated for sacrococcygeal teratoma, operated in 1985, 1984 and 2006, have ever developed functional sequelae such as ano-rectal and/or bladder dysfunction or hypotonia of the lower limbs. CONCLUSIONS: From this review of our selected cases and in the light of literature reports, we can draw the following conclusions. Some sacrococcygeal teratomas may have unique characteristics distinguishing them from more common cases, especially those included in the Currarino Syndrome, with or without an association with other malformations such as Hirschsprung's Disease and Cloacal anomalies. Being congenital tumors, prenatal diagnosis by US scan is extremely important in order to decide either for an anticipated delivery or to perform, in critical fetuses, prenatal treatment within highly specialized facilities, or to organize proper perinatal care, always in appropriate facilities where it is possible to define the diagnosis and carry out emergency surgery. An emergency procedure is frequently dictated both by complications related to the mass effect, and by the need to define the histology of the whole mass rather than just small biopsy specimens. Some sacrococcygeal teratomas can hide more or less extensive islands of immaturity or signs of malignant transformation that are clinically evident. The prognosis is generally benign, although AIEOP (Associazione Italiana Ematologia Oncologica Pediatrica) 2004 guidelines pointed out that high levels of circulating markers, including AFP, in children affected by mature or immature teratomas would indicate the presence of micro-foci of YST, marking them out as at high risk. The UKCCSG II (Children UK Cancer Study Group) and the SFOP (Société Française d'Oncologie Pédiatrique) indicated AFP values exceeding 10,000 ng / ml as the threshold identifying a group of patients with severe prognosis. The treatment indicated is early, complete exeresis, followed by a careful, extensive microscopic examination associated, if necessary, with adjuvant chemotherapy, that is indicated before surgery only in infiltrating primary malignant teratomas. Sacrococcygeal teratomas are commonly considered as lesions at particular risk, in which the coccyx must always be removed together with the mass and overlying skin, taking particular care of the deep pelvic fascia to prevent functional disorders of the bladder and anal canal, as well as any motor alterations of the lower limbs, usually due to iatrogenic lesions of the subfascial nerve structures. There is a ananimous consensus that to improve the prognosis, close, long-term clinical, laboratory and imaging surveillance is essential at shorter intervals during the first 5 years after the exeresis and annually thereafter. In newborns or infants suffering from congenital malformations associated with teratomas, definitive surgical correction, if indicated, must obviously be postponed to a proper time, especially in patients with multiple malformations or needing adjuvant chemotherapy, unless a complication arises or the repair cannot be delayed.

Metrorrhagia in a child with an endodermal sinus tumor of the vagina: a case report.

In a female child presenting with vaginal bleeding or a mass protruding through the vagina, it is mandatory to perform an endoscopic and laparoscopic examination and biopsy to establish the correct diagnosis and precise extent of the lesion. An endodermal sinus tumor (EST) of the vagina is a rare, malignant germ cell tumor that occurs primarily in infants. Clearly, the vagina is a critical site for treatment, and the surgeon should seek to preserve the reproductive and sexual function, if possible. We report our experience of a case of EST of the vagina in a 9-month-old female with a history of metrorrhagia. We employed minimally invasive procedures for diagnosis and then, after the administration of platinum- based chemotherapy (PEB regimen), removed a residual lesion during follow-up. These procedures resulted in tumor regression. At follow-up, after two years, the patient is alive and disease-free.