Neuroblastoma in a Neonate: A Case Report.

Neuroblastoma represents approximately 6 to 10 percent of childhood cancers, yet is one of the most common solid tumors observed in neonates; approximately 700 cases are reported in the United States each year. Neuroblastoma occurs secondary to oncogene mutations that cause abnormal proliferation of neural crest cells and tumor formation anywhere along the spinal cord. Visible manifestations include a blueberry rash and subcutaneous skin nodules. Common histologic findings include multifocal, small, round, blue cell tumors. Cytogenetics testing differentiates aggressive versus nonaggressive forms of neuroblastoma. Treatment ranges from supportive care to surgery and chemotherapy; targeted molecular therapies and immunotherapy offer opportunity to individualize treatment. Morbidity and mortality are contingent upon age at diagnosis and genetic abnormalities. Neonatal clinicians must establish and maintain active knowledge of the current science pertaining to this neoplasm to assist in early identification and timely initiation of medical management. This article presents a case report and comprehensive discussion of the state of the science on metastatic familial (congenital) neuroblastoma.

Congenital Rhabdomyosarcoma: a different clinical presentation in two cases.

BACKGROUND: Rhabdomyosarcoma (RMS), one of the most common soft tissue sarcomas of childhood, is very rare in the neonatal period (0.4-2% of cases). In order to gain a deeper understanding of this disease at such age, patient and tumor features, as well as treatment modality and outcome need to be reported. CASE PRESENTATION: We describe two cases with congenital RMS treated at Bambino Gesù Children's Hospital between 2000 and 2016. They represent only 2.24% of all RMS patients diagnosed during that period in our Institution; this data is in agreement with the incidence reported in the literature. They reflect the two different clinical forms in which the disease may manifest itself. One patient, with the alveolar subtype (positive for specific PAX3-FOXO1 fusion transcript) and disseminated disease, had a fatal outcome with central nervous system (CNS) progression despite conventional and high dose chemotherapy. The other child, with the localized embryonal subtype, was treated successfully with conservative surgery and conventional chemotherapy, including prolonged maintenance therapy. He is disease free at 7 years of follow-up. CONCLUSIONS: RMS can also be diagnosed during the neonatal period. Given the young age, disease management is often challenging, and especially for the alveolar subtype, the outcome is dismal despite intensified multimodality therapy. In fact, it characteristically manifests with multiple subcutaneous nodules and progression most commonly occurs in the CNS (Rodriguez-Galindo et al., Cancer 92(6):1613-20, 2001). In this context, CNS prophylaxis could play a role in preventing leptomeningeal dissemination, and molecular studies can allow a deeper tumor characterization, treatment stratification and identification of new potential therapeutic targets.

Perinatal outcome of sacrococcygeal teratoma.

OBJECTIVE: To evaluate the outcome in a cohort of fetuses with isolated sacrococcygeal teratoma (SCT) in relation to the need for in utero intervention. METHODS: We retrospectively analyzed a cohort of fetuses prenatally diagnosed with SCT between September 2000 and December 2010. Postnatal outcomes were evaluated in relation to the need for intervention in utero by reviewing medical records. RESULTS: Of the 35 fetuses diagnosed with SCT during the study period, ten were lost to follow up and three had been misdiagnosed as SCT. Among the remaining 22 cases, in utero interventions were performed in eight, including radiofrequency ablation (RFA) in four, shunt operations in two, RFA plus cyst aspiration in one, and RFA with subsequent shunt operation in one. Tumors of cases undergoing in utero intervention were larger with rapidly growing, more frequently vascular, and with associated polyhydramnios or cardiomegaly. The rate of preterm births was higher in the cases that underwent interventions compared with those that did not (7/8 vs 2/14). Only one tumor showed regression after RFA while the other seven increased in size. Median tumor size at birth was significantly larger in the intervention group than in the nonintervention group (136 mm vs 80 mm). The neonatal survival rate was 6/8 for the prenatal intervention group and 14/14 for the nonintervention group. Resection of SCT was required in all neonates. The most common complication after postnatal surgery was fecal incontinence. CONCLUSION: Fetuses with SCT undergoing in utero intervention have worse prognostic features, yet their neonatal outcome is similar to those of fetuses not requiring intervention.

Congenital hemangiopericytoma in a neonate.

Hemangiopericytoma is a rare malignant vascular tumor that usually occurs in adults. The occurrence of these tumors in infants, known as congenital or infantile hemangiopericytoma, is even rarer and their behavior may be more benign than the adult type. We describe a 1-day-old female neonate with congenital hemangiopericytoma, presenting with a right inguinal mass at birth. At the time of surgery, lymphangioma was suspected because of its appearance, fluid-filled multicystic content, and the high incidence of this disease in pediatric patients. Tumor excision was performed and hemangiopericytoma was diagnosed by histology. There was no tumor recurrence during 12 months of follow-up.

The laparoscopic approach to sacrococcygeal teratomas.

BACKGROUND: Sacrococcygeal teratomas (SCT) are classically approached posteriorly through an inverted chevron incision. In large, external, mainly solid SCT, prior interruption of the arterial supply is warranted because of impending heart failure and life-threatening hemorrhagic diathesis. Hitherto, this has required prior laparotomy. A laparotomy is also added when the tumor extends presacrally into the pelvis. The presacral region is, however, difficult to access. A laparoscopic-assisted approach seems to offer a solution for both problems. METHODS: A laparoscopic-assisted approach was used in five patients with SCT. In one neonate, it was used to interrupt the arterial blood supply only; in the other four patients, it was used to dissect the internal extension of the tumor. RESULTS: Laparoscopic interruption of the median sacral artery proved to be simple in the neonate with a large, external, mainly solid SCT. In three of the remaining four patients with presacral extension of the tumor, good visualization and dissection of the intrapelvic portion of the tumor was obtained. In one patient, the procedure had to be converted because of a lack of working space due to extensive intraabdominal growth of the tumor. CONCLUSION: A laparoscopic-assisted approach seems to be ideal for SCT. It provides the opportunity to interrupt the median sacral artery before the dissection. Moreover, it enables far better access to the presacral area than the conventional surgical approach when the SCT extends presacrally into the pelvis. Such a meticulous laparoscopic dissection may improve the functional results.

Repeated skin expansion for excision of congenital giant nevi in infancy and childhood.

Three children with giant pigmented nevi were treated by repeated tissue expansion. Five flaps were expanded twice, and one flap was expanded three times. The delay between expansions was 4 to 15 months (mean 9 months). With full inflation, vascularization of the flap remained good. However, every new expansion decreased flap length by 50 percent. Overall results with this technique, especially in two infants with giant pigmented nevi involving respectively 20 and 40 percent of the body surface, have been most impressive. Only one major complication has occurred: erosion of the skin caused by a fold of the expander envelope resulting in exposure of the expander. This technique improves the early surgical management of giant pigmented nevi and may provide better long-term functional and cosmetic results.

Intraabdominal leg: unique variant of split notochord syndrome.

An infant was born with a spectrum of anomalies representing a unique variant of the split notochord syndrome. The major anomalies included giant omphalocele and duplicated lower spine, between which developed a posterior lumbosacral mass that was contiguous with an intraabdominal, skin-covered "leg" within a saccular cecum. Features of this case overlap aspects of fetiform teratoma, fetus-in-fetu, conjoined twins, and caudal duplication, suggesting an etiologic relation between these entities and split notochord syndrome.

Diffuse neonatal hemangiomatosis without cutaneous lesions in an adult--a case report.

Diffuse neonatal hemangiomatosis (DNH) is a rare disorder that first presents with multiple cutaneous and visceral hemangiomas during the neonatal period and has a high mortality rate. The authors report a long-term survivor of DNH who presented with multiple visceral hemangiomas without cutaneous lesions. Vascular endothelial growth factor (VEGF) may play an important role in tumor progression.

Ondine's curse and neurocristopathy.

A newborn with congenital neuroblastomas, Ondine's curse (central hypoventilation) and Hirschsprung's disease is presented. All lesions may be related embryologically and might fall under the general heading of neurocristopathy.

[Does Bolande's malignant tumor exist?]. / Existe el tumor de Bolande maligno?

Congenital mesoblastic nephroma (CMN) is a rare renal neoplasm which Bolande differentiated from Wilms tumour given its benign nature. We describe 7 cases of CMN which have been treated over the last ten years, in order to highlight to what extent a tumour which is generally considered to be benign can have an aggressive behaviour. 5 patients were diagnosed during their neonatal period (3 of them prenatally) and 2 after the third month of life. Clinical presentation, simple abdominal radiology, echography and abdominal CT scan, which showed characteristic images, led us to a final diagnosis. Tumoral resection was carried out in the 6 typical CMN. The atypical or aggressive CMN was urgently operated under critical circumstances due to spontaneous tumoral rupture. The pathological study showed a CMN of cellular variety with a sarcomatous component. Despite adjuvant chemotherapy, there was a tumoral recurrence which required a surgical second-look and subsequent chemotherapeutical treatment. Bolande's tumour is generally benign, but there is an aggressive cellular variant that fits into the intermediate zone of a pathological spectrum. This aggressive variant have different clinical, radiological and anatomo-pathological features and therefore it involves radical surgical treatment and additional chemotherapy with a rigorous follow-up in the short and the long term.

[Malignant neonatal tumors]. / Tumeurs néonatales malignes.

Malignant neonatal tumors are rare (2% of childhood cancers, 1-2 cases/30,000 births). However, specificities in diagnosis and therapy must be underlined at this period of life; furthermore, the possibilities of antenatal sonographic diagnosis are improving and it may contribute to increase their incidence. Topographic analysis allows etiologic investigations since these tumors have the same diagnostic features as compared with older children, except Pepper's syndrome and leukemias. Therapeutic management depends on a rather good prognosis and fragility of such newborn. Indeed, surgical excision is the main step of treatment. Radiotherapy must be avoided whenever possible. Chemotherapy may be indicated (metastatic or unresectable tumors, omission or delay of irradiation in brain tumors) and has to be elaborated cautiously, according to the peculiar physiology of the neonate. Whatever the therapeutic strategy is, neonatal homeostasis must be well balanced, which implies a multidisciplinary specialized team. Respecting these conditions will help to cure more than the present 50% and better for future well being of such children.

Congenital abdominal cystic lymphangiomas: what is the correct management?

INTRODUCTION: Intraabdominal cystic lymphangioma is a rare benign lesion with a variable clinical presentation. The aim of this study was to evaluate the natural outcome of this lesion and to propose a decision-making protocol for antenatal suspected intraabdominal lymphangioma. We also would like to emphasize the role of laparoscopy in treatment. MATERIALS AND METHODS: This retrospective study examined 14 cases of intraabdominal cystic lymphangioma in children underwent to our observation, at the Pediatric Surgery Department in Lapeyronie Hospital, Montpellier between 1996 and 2007. RESULTS: Of the 14 patients, 12 were operated on (7 by laparoscopy and 5 in open surgery). In 2 patients we didn't perform intervention because the lesion was localized in the mesenteric root: we observed a regression of the lesion on US-scan. CONCLUSION: The intraabdominal cystic lymphangioma is a rare lesion which is now sometimes suspected on antenatal US scan; consequently we observed at the present time an increasing number of lesion potentially asymptomatic: in these case the management has to be established and a risk-benefit balance has to be made before a surgical intervention. Our experience is limited to a small number of cases, and it is too premature to describe any final conclusion; however our suggestion is that clinical course of cystic abdominal lymphangioma is unknown, and we propose that if no complication occurs, a clinical and ultrasonographic monitoring should be done in case of mesenteric root localisation.

Propranolol as a novel treatment for congenital visceral haemangioma.

Haemangiomas are the most common soft tissue tumours in infancy, occurring in approximately 5-10% of 1-year-old children. Current drug-based therapeutic options for large haemangiomas include corticosteroids, α-interferon and vincristin, all of which can result in harmful side effects. Recently, promising results have been reported using the non-cardio-selective ß-blocker propranolol for the treatment of cutaneous capillary haemangiomas, in which a spectacular size reduction was observed during the first 7 days of treatment. We here report a similar significant and rapid inhibitory effect of propranolol on the growth of a viscerally located congenital haemangioma.