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.

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.

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.

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.

Hepatoduodenal ligament teratoma with hepatic artery running inside.

Teratoma in infants and children is not particularly rare. However, the teratoma in the hepatoduodenal ligament is extremely rare and the surgical treatment is challenging because of its anatomical complexity. We could find only six cases in the literature. In this report, we present the seventh case with special reference to the operative technique to save the hepatic artery for resection of the tumor using intraoperative ultrasonography.

Terlipressin as rescue treatment of refractory shock in a neonate.

UNLABELLED: Patients with septic shock may develop refractory hypotension despite maximal inotropic support with impairment of clinical outcome. Terlipressin, a long-acting vasopressin analogue, is reported to be effective as rescue treatment of refractory septic shock in adult and paediatric patients, while clinical experience in neonates is definitely scarce. We report a neonate with systemic inflammatory response syndrome after surgery for abdominal neuroblastoma who received terlipressin as rescue treatment after failure of volume load and catecholamines. Terlipressin promptly reversed hypotension and improved tissue perfusion without adverse effects. CONCLUSION: Terlipressin appears an effective rescue treatment in patients with refractory vasodilatory septic shock. Further studies are required to assess its efficacy and safety in neonatal population.

Fetal abdomino-perineal lymphangioma: differential diagnosis and management.

Fetal lymphangiomas are rare congenital anomalies of the lymphatic system most commonly presenting in the head and neck. Cystic abdominal lymphangiomas are more rare with only a few cases reported prenatally. We report a case of a prenatally detected abdomino-perineal lymphangioma that mimicked the more fatal prenatally detected sacrococcygeal teratoma (SCT), which resulted in one caregiver suggesting termination of the pregnancy. This case demonstrates the importance of carefully considering the differential diagnosis of fetal abdomino-perineal masses when counseling parents.

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.

Congenital orbital and disseminated extrarenal malignant rhabdoid tumor.

A 5-week premature infant boy with tumorous malformations underwent biopsy of two truncal masses and exenteration of the left orbit. Specimens were examined histologically. Histologic reports, slides, and clinical photographs were reviewed. A diagnosis of malignant rhabdoid tumor was made. Malignant rhabdoid tumors can present as local or disseminated neoplastic disease involving the orbit and should be considered in the differential diagnosis of rapidly progressing orbital lesions presenting in early infancy. We review the current classification of rhabdoid tumors and the previous literature on orbital rhabdoid tumors.

[Posteromedial bowing of the lower leg and neuroblastoma with possible neurofibromatosis type I: a case report and literature review]. / Posteromediale Unterschenkelverbiegung und Neuroblastom bei Verdacht auf Neurofibromatose Typ I: Kasuistik und Literaturübersicht.

BACKGROUND: The posteromedial bowing of the tibia is a rare condition that is not yet known to be related to neurofibromatosis. The case of a three month-old boy with the tentative diagnosis of neurofibromatosis is described. He developed paraplegia due to an abdominal neuroblastoma at the age of 9 months. This led us to a review of the literature. METHOD: 122 cases of posteromedial bowing of the tibia in 20 publications of the years 1949 - 2000 were analysed under special respect to gender, side of affection, shortening of the lower leg, treatment and possible cause. RESULTS: The posteromedial bowing of the lower leg seems to affect more boys as well as the left side. As far as described in all but one case it was the first delivery. Regularly, a limb shortening and pes calcaneovalgus is to be found. 99 children were treated conservatively, 21 got an operation of the affected side. In 19 performed osteotomies no pseudarthrosis occurred. One case of a fracture due to an adequate trauma without healing problems is described.

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.

Recombinant interferon alfa 2a in hepatic hemangiomatosis with congestive heart failure: a case report.

A 45-day-old patient was admitted with dyspnea, hepatomegaly, tachycardia, holosystolic murmur in the precordial region, and continuous murmur at the right hypochondrium. Four cutaneous angiomas were noted. Instrumental examinations revealed congestive heart failure and multiple focal lesions in the liver with typical features of hemangiomas. The therapy with subcutaneous interferon-alfa-2a (IFN-alpha) was administered for 12 months with progressive regression of cutaneous hemangiomas, liver lesions, and cardiological alterations. IFN-alpha therapy was effective without any significant adverse effects.

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.

Non-mosaic trisomy 20 presenting at 21 weeks' gestation as a thoraco-abdominal mass.

Non-mosaic trisomy 20 is rare in fetuses surviving beyond the first trimester. We report a case of a fetus with non-mosaic trisomy 20 in amniotic fluid cultures obtained during the prenatal evaluation of an unusual thoraco-abdominal mass which was found at autopsy to be pulmonary sequestration. Gross inspection and autopsy of the fetus revealed multiple anomalies.

Successful therapy in a child with a congenital peripheral medulloepithelioma and disruption of hindquarter development.

PURPOSE: Medulloepithelioma is an embryonal multipotential neuroepithelial tumor with a striking potential for divergent differentiation. It is usually intraocular or intracerebral and associated with a good prognosis only if completely surgically excised. Data regarding therapy in children with incompletely resected tumors are limited. PATIENT AND METHODS: A girl was born with a large, peripheral, congenital medulloepithelioma associated with complete absence of the left hindquarter and anus. Plain film, ultrasonography, and magnetic resonance imaging demonstrated complete absence of the left kidney and hemipelvis. A subtotal resection of the mass and reconstruction of the tumor-related anatomical defects were performed. RESULTS: Pathologic examination showed neuroglia and pseudostratified neuroectoderm diagnostic of medulloepithelioma. She was treated with multiagent chemotherapy including vincristine, cisplatin, cyclophosphamide, carboplatin, and etoposide. She is now 50 months of age and developing normally without recurrent disease. CONCLUSIONS: A child with an incompletely resected congenital peripheral medulloepithelioma who has experienced long-term disease-free survival after treatment with chemotherapy is described. This report supports a role for adjuvant chemotherapy in the treatment of children with peripheral medulloepithelioma.

Diffuse splenic and visceral hemangiomas complicated by chronic consumption coagulopathy.

The case of a 7-year-old girl with a 2 year history of easy bruising associated with thrombocytopenia is reported. On admission she presented with ecchymoses, abdominal distention and splenomegaly. Hemostasis investigation revealed a consumption coagulopathy. Several radiological studies failed to confirm the diagnosis of diffuse splenic and visceral hemangiomatosis, which was eventually established by an explorative laparotomy. Platelet count and the other coagulation abnormalities progressively returned to normal after splenectomy, although the remaining hemangiomas were extensive.