Congenital Neuroblastoma.

Neuroblastoma is the most common extracranial solid tumor diagnosed during childhood and gives rise to various heterogeneous tumors along the sympathoadrenal axis. Congenital neuroblastoma accounts for 5% of total neuroblastoma cases diagnosed annually, with the majority of cases diagnosed in the first month after birth. Interestingly, neonates demonstrate a unique disease trajectory compared with children older than 1 year of age. This article will provide information on the pathogenesis and variable clinical presentation of congenital neuroblastoma, along with the biological prognostic factors that predict long-term outcomes in affected neonates.

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.

The observation of congenital retroperitoneal large size neuroblastoma.

The article represents current literature data on epidemiological, clinical-morphological features and diagnostic criteria of neuroblastoma. The case of large congenital neuroblastoma with multiple metastases in the newborn child is presented. The histological picture and immunohistochemical profile of the tumor allowed us to consider this type of neuroblastoma as the least differentiated variant (subtype, "neuroblastoma rich in Schwann stroma"), with rapid progression and metastasizing started before the birth of the child.

MYCN Amplified Relapse Following Resolution of MYCN Nonamplified 4S Neuroblastoma With Placental Involvement: A Case Report and Review of the Literature.

Congenital neuroblastoma with placental involvement is exceptionally rare, but mortality is high. Detailed examination of placenta including MYCN amplification and segmental chromosomal aberrations should be performed in all suspected cases, as it is noninvasive and readily available. Maternal dissemination has not been reported. In this manuscript, we describe an infant with placental diagnosis of MYCN nonamplified congenital neuroblastoma. This is the first report of a recurrence of congenital 4S neuroblastoma following resolution in which MYCN amplification is only detected in the recurrence. Germline sequencing using a large comprehensive cancer panel did not reveal variants in candidate cancer predisposition genes.

[Acute shock secondary to congenital neuroblastoma: Neonatal case report]. / Shock agudo secundario a un neuroblastoma congénito: Caso clmico neonatal.

Congenital neuroblastoma is the most frequent malignant solid tumor in the neonatal period. The clinical presentation is usually either by prenatal diagnosis or by palpation of an abdominal mass. Staging allows classifying it according to risk groups with a different prognosis and treatment. In the neonatal period, it is characterized by a high rate of spontaneous regression and good prognosis (disease-free survival at 5 years greater than 90 %). We present a clinical case of congenital neuroblastoma whose presentation, shock and hypertension, was only described on a previous occasion. Antihypertensive treatment along with systemic chemotherapy produced clinical control and patient improvement.

El neuroblastoma congénito es el tumor sólido maligno más frecuente en el período neonatal. La forma de presentación suele ser por diagnóstico prenatal o por una masa abdominal. Su estadificación permite clasificarlo en grupos de riesgo con pronóstico y tratamiento diferentes. En el período neonatal, se caracteriza por la alta tasa de regresión espontánea y el buen pronóstico (supervivencia libre de enfermedad a los 5 años superior al 90 %). Se presenta un caso clínico de neuroblastoma congénito cuya forma de presentación, shock e hipertensión, solo estaba descrita en otra ocasión antes. El tratamiento antihipertensivo, junto con la quimioterapia sistémica, produjo el control clínico y la mejoría del paciente.

Tumor maligno congénito. Síndrome de Pepper / Congenital malignant tumor: Pepper's Syndrome

Pepper's syndrome refers to a neuroblastoma originated in the adrenal glands that usually metastasizes to the liver with abdominal development and respiratory involvement because of thoracic compression. The metastasic tumors are usually infrequent with an unfavorable prognosis. The cases reported in the world literature are very few. The congenital form of neuroblastoma is uncommon. The aim of this report was to describe a typical clinical case of a new born who died because of a metastasic malignant tumor, comptible with a Pepper's syndrome

Fetal neck tumors - antenatal and intrapartum management.

In this review article we describe the ante- and perinatal management of fetal neck tumors. Although there are rare congenital anomalies, the clinical consequences for the fetus may be fatal and include airways obstruction, heart insufficiency, pulmonary hypoplasia and cosmetic effect. The right management allows to decrease the fetal and neonatal mortality and morbidity associated with the disease. It includes intrauterine therapy in some cases, mostly in a goitrus hypothyroidism of the fetus, but firstly, an assessment of the fetal airways patency with a subsequent, eventual Ex-Utero Intrapartum Treatment (EXIT).

Refractory Chylous Ascites Secondary to Neuroblastoma.

BACKGROUND: Neonatal ascites is a complex condition that often poses a diagnostic dilemma for the clinician. We present a case of neonatal ascites secondary to neuroblastoma. CASE PRESENTATION: Our neonatal patient had congenital and recurrent chylous ascites despite multiple postnatal paracenteses, which resolved with complete resection of a retroperitoneal neoplasm. CONCLUSION: Congenital neuroblastoma may present with chylous ascites, probably due to disruption of the lymphatic vasculature.

Fatal Congenital Retroperitoneal Neuroblastoma Diagnosed by Fetal Magnetic Resonance Imaging.

Congenital extra-adrenal neuroblastoma is a rare condition, which typically has a favorable prognosis. We present a unique case of extra-adrenal retroperitoneal neuroblastoma diagnosed by fetal magnetic resonance imaging, which ultimately leads to fetal hydrops and neonatal death.

Congenital Adrenal Neuroblastoma With and Without Cystic Change: Differentiating Features With an Emphasis on the of Value of Ultrasound.

OBJECTIVE: The purpose of this study was to compare the features of congenital adrenal neuroblastomas with and without cystic changes and to emphasize the value of ultrasound in the diagnostic evaluation of cystic congenital adrenal neuroblastoma. MATERIALS AND METHODS: A total of 41 patients with surgically confirmed congenital adrenal neuroblastoma were enrolled. We divided the patients into two groups according to presence or absence of cystic change in the tumor, as determined from the initial ultrasound findings. Clinical and laboratory findings, disease stage, and patient outcome were investigated with a statistical comparison between the two groups. The imaging findings for cystic congenital adrenal neuroblastoma were reviewed to compare the additional diagnostic value of CT and MRI when paired with ultrasound. RESULTS: There were 22 patients (54%) in the group without cystic changes and 19 patients (46%) in the group with cystic changes. Prenatal detection and absence of metastasis were significantly more common in the cystic group than in the noncystic group (p < 0.05). Sensitivities of tumor marker levels were also significantly lower in the cystic group. Patient outcome was excellent, and there was no significant difference between the groups. With regard to imaging of cystic congenital adrenal neuroblastoma, in the 15 cases in which CT or MRI was paired with ultrasound, no additional diagnostic information was discerned with CT or MRI. CONCLUSION: Nearly one-half of congenital adrenal neuroblastomas are cystic, and these tumors have clinical and laboratory features that distinguish them from noncystic congenital adrenal neuroblastoma. Diagnostic tests, including CT, MRI, and assessment of tumor markers, have low diagnostic value in the evaluation of cystic congenital adrenal neuroblastoma.

Neuroblastoma presenting with symptoms of epidural compression at birth: a case report.

BACKGROUND: Five to 10 % of children with neuroblastoma present with symptoms of epidural compression (EC). More than half these patients are diagnosed in the first year of life. The case of a neuroblastoma presenting symptoms of EC at birth is exceptional and deserves to be reported. CASE PRESENTATION: We describe a case of female born at the 36(th) week of pregnancy by caesarian section decided following ultrasonographic discovery of oligohydramnios. At birth, she was noted to have motor deficit involving both legs and continuous urinary dripping. These symptoms were found to be secondary to a paraspinal neuroblastoma infiltrating the spinal canal. Tumor responded well to chemotherapy, but neurologic deficit only slightly improved and bladder dysfunction remained unchanged. At 2 years of age, patient is able to walk with help of leg orthoses, suffers chronic constipation requiring daily medications, and has neurologic bladder necessitating multiple daily catheterizations. CONCLUSIONS: The finding of a newborn presenting with symptoms of EC secondary to a neuroblastoma invading the spinal canal is quite uncommon. The case described herewith confirms that these rare patients have an excellent survival probability, but almost always develop severe functional sequelae.

Congenital neuroblastoma with symptoms of epidural compression at birth.

The occurrence of congenital neuroblastoma presenting at birth with symptoms of epidural compression secondary to spinal canal invasion is rare. Almost all cases reported in the literature have survived from the tumor but suffer severe sequelae, with the exception of the 2 most recently described whose birth was anticipated. The 3 cases of this article have been followed for a minimum of 5 years with the aim to describe their definitive late complications. In none of these cases had the routine ultrasound scan performed in third trimester of pregnancy discovered a tumor mass, nor had it shown abnormal fetal movements. All had leg hypotonia detected on the first day of life. In all, both primary and intraspinal tumors responded well to chemotherapy. All survive with motor deficit and severe bladder dysfunction despite early physiotherapy. Scoliosis has developed in the case with the longest follow-up. The description of these patients enforces the importance of early diagnosis of tumor masses in late pregnancy. Neonatologists should be aware of this rare clinical entity and take it into account in the differential diagnosis with other conditions of early-onset hypotonia. On the other hand, obstetric sonologists should be aware of the possibility to detect such rare tumors in late pregnancy, as anticipation of delivery may reduce the risk of late sequelae.

Congenital neuroblastoma presenting with paraplegia following spinal puncture in a neonate. Case report and review of the literature.

Neuroblastoma is the most common intraspinal solid tumor of childhood. Neurological deterioration due to an intratumoral hemorrhage following a spinal puncture is extremely rare. We report on the case of a 23-day-old neonate who was admitted to our institution for the onset of a paraplegia following a diagnostic lumbar puncture. The MRI showed an epidural tumor with massive intratumoral hemorrhage. Operatively and with histologic confirmation, the mass was determined to be a neuroblastoma. Following surgery, neurological function improved.

Diagnostic Imaging of Fetal and Neonatal Abdominal and Soft Tissue Tumors.

Imaging plays a key role in the diagnosis and staging of prenatal and neonatal tumors, and is essential in treatment planning. Though obstetrical ultrasound is the first choice prenatally, fetal MRI continues to play an increasing role as experience with this imaging modality increases. In the neonate, in addition to ultrasound and MRI, CT and nuclear medicine studies can also play an important role. We describe the prenatal and neonatal imaging findings of some of the most common congenital abdominal and soft tissue neoplasms including neuroblastoma, renal, liver and soft tissue tumors.

Congenital neuroblastoma with placental involvement.

We describe an extremely rare case of congenital neuroblastoma with placental involvement. A fetus with a left abdominal mass detected during ultrasonography at 23 weeks' gestation developed hydrops fetalis by 26 weeks' gestation. The mother developed hypertension at 26 5/7 weeks' gestation. Based on a clinical diagnosis of pregnancy-induced hypertension, labor was induced at 26 6/7 weeks. However, intrauterine fetal death was diagnosed during delivery. Postmortern examination revealed a solid tumor at the site of the left adrenal gland. Histological examination of the tumor revealed dense proliferation of small round tumor cells with sparse cytoplasm and hyperchromatic nuclei. Some tumor-cell complexes contained abundant neurofibrils and Hormer-Wright rosettes were observed. A diagnosis of neuroblastoma of the left adrenal gland was made. The liver was markedly enlarged and was extensively replaced by neuroblastoma cells. In addition, small nests of tumor cells were detected in the blood vessels of various organs including the heart, lung, spleen, kidneys, stomach, small and large intestine, thyroid gland, testis, spinal cord, and bone marrow. Histological examination of the enlarged placenta revealed numerous neuroblastoma cells in the villous fetal capillary spaces. The present case was unusual in that the tumor cells were found not only in the chorionic villi, but also in the intervillous space of the maternal vascular system. However, there was no clinical evidence of maternal metastasis.

Congenital neuroblastoma in a neonate with isotretinoin embryopathy.

We describe a neonate with isotretinoin embryopathy and an incidental finding of congenital neuroblastoma. Diffuse liver metastases led to the decision to provide oncologic therapy followed by tumor resection. Despite the possible need for chronic care related to the comorbidities of the isotretinoin embryopathy and oncologic management, the patient remains disease-free. Because of the uncertain etiology of neuroblastoma, it remains unclear whether exposure to isotretinoin during embryogenesis and fetal development had an oncogenic effect on this patient.

Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy.

Constitutional 11q deletion is a chromosome imbalance possibly found in MCA/MR patients analyzed for chromosomal anomalies. Its role in determining the phenotype depends on extension and position of deleted region. Loss of heterozygosity of 11q (region 11q23) is also associated with neuroblastoma, the most frequent extra cranial cancer in children. It represents one of the most frequent cytogenetic abnormalities observed in the tumor of patients with high-risk disease even if germline deletion of 11q in neuroblastoma is rare. Hereby, we describe a 18 months old girl presenting with trigonocephaly and dysmorphic facial features, including hypotelorism, broad depressed nasal bridge, micrognathia, synophrys, epicanthal folds, and with a stage 4 neuroblastoma without MYCN amplification, carrying a germline 11q deletion (11q14.1-q22.3), outside from Jacobsen syndrome and from neuroblastoma 11q critical regions. The role of 11q deletion in determining the clinical phenotype and its association with neuroblastoma development in the patient are discussed.