Large congenital cervical mass in a neonate: prenatal diagnosis and postnatal management of teratoma: a case report.

INTRODUCTION: Cervical teratomas are rare congenital neoplasms that can cause neonatal airway obstruction if large. CASE PRESENTATION: The female Persian neonate displayed respiratory distress at birth, with a 7 cm × 8 cm cystic solid mass identified on the left side of the neck. Antenatal ultrasonography revealed polyhydramnios. Despite initial stabilization, the infant required intubation and mechanical ventilation due to persistent respiratory distress. Imaging confirmed a cystic mass compressing the trachea, ruling out cystic hygroma. Surgical resection on postnatal day 17 revealed a 10 cm × 10 cm solid cystic structure, histologically identified as an immature teratoma. CONCLUSION: Despite risks of poor fetal and postnatal outcome from large cervical teratomas, early surgical resection after airway stabilization can result in recovery. Proper multidisciplinary management of respiratory distress from such tumors is paramount.

Fetal body MRI and its application to fetal and neonatal treatment: an illustrative review.

This Review depicts the evolving role of MRI in the diagnosis and prognostication of anomalies of the fetal body, here including head and neck, thorax, abdomen and spine. A review of the current literature on the latest developments in antenatal imaging for diagnosis and prognostication of congenital anomalies is coupled with illustrative cases in true radiological planes with viewable three-dimensional video models that show the potential of post-acquisition reconstruction protocols. We discuss the benefits and limitations of fetal MRI, from anomaly detection, to classification and prognostication, and defines the role of imaging in the decision to proceed to fetal intervention, across the breadth of included conditions. We also consider the current capabilities of ultrasound and explore how MRI and ultrasound can complement each other in the future of fetal imaging.

Infantile myofibromatosis: multiple firm nodules in a premature newborn.

Infantile myofibromatosis is a rare myofibroblastic proliferative disorder characterized by firm, skin-colored to red-purple cutaneous and subcutaneous nodules; these are the most prevalent fibrous tumors observed in infancy. A premature male infant presented at birth with multiple subcutaneous firm skin-colored nodules measuring about 1-2cm each. Full body MRI and excisional biopsy of the right chest nodule confirmed the diagnosis. We review the case of infantile myofibromatosis and discuss its highly heterogeneous presentation and clinical course, as well as histopathology, genetic testing, and approaches to management.

Cutaneous Cephalic Neurocristic Hamartoma on the Head With Melanocytic, Cartilage, Blood Vessel, Neural, and Bony Tissue.

ABSTRACT: We report on a congenital tumor of the face and scalp in a male newborn, histologically proven to contain melanocytes, cartilage, and bone, vascular, and neural tissue as part of a pigmented congenital tumor. Thus, this tumor was classified as a cutaneous cephalic neurocristic hamartoma.

Identification of KRAS mutation in a patient with linear nevus sebaceous syndrome: a case report.

BACKGROUND: Linear nevus sebaceous syndrome (LNSS) is a rare genetic disease characterized by large linear sebaceous nevus typically on the face, scalp, or neck. LNSS could be accompanied by multisystem disorders including the central nervous system. Herein, we report gene mutational profile via whole exome sequencing of both lesional and non-lesional skin samples in a LNSS patient. CASE PRESENTATION: A 17-year-old girl presented with multisystem abnormalities, including large skin lesions, ocular disorders, abnormal bone development and neurological symptoms. A diagnosis of LNSS was established based on clinical manifestations, histopathological and imaging findings. The skin lesions were resected and no recurrence was noted at the time of drafting this report. Whole exome sequencing of genomic DNA revealed the following 3 mutations in the lesions of the index patient: KRAS (c.35G > A, p.G12D), PRKRIR (c.A1674T, p.R558S), and RRP7A (c. C670T, p.R224W), but no mutation was found in the healthy skin and peripheral blood sample of the index patient, or in the blood samples of her parents and sibling. PCR-mediated Sanger sequencing of DNA derived from lesional skin sample of the index patient verified KRAS mutation, but not PRKRIR (c.A1674T, p.R558S) and RRP7A (c. C670T, p.R224W). None of the 3 mutations was found in Sanger sequencing in skin lesions of 60 other cases of nevus sebaceous patients. CONCLUSIONS: Our findings show the relevance of KRAS mutation to LNSS, providing new clues in understanding related genetic heterogeneity which could aid genetic counselling for LNSS patients.

Fourth branchial pouch anomaly presenting as a neonatal neck lump.

A 1-week-old female infant presented with a transilluminating neck lump that increased in size with crying. The presumptive diagnosis was lymphatic malformation, but imaging raised the possibility of an abscess or necrotic tumour. A biopsy revealed a likely developmental cyst with local inflammatory change. Microlaryngoscopy revealed a fourth branchial pouch sinus, which was cauterised. The sinus and neck lump resolved without need for further treatment.

Superior Vena Cava Syndrome and Hypoxic Ischemic Encephalopathy Secondary to a Massive, Right-Sided Immature Cervical Teratoma.

Cervical teratomas are a rare form of fetal teratoma that can grow to massive size. Generally, these masses can be surgically excised after birth with excellent physical and functional prognosis because the benign variants respect anatomical borders. The primary complications of these masses are associated with compromise of the trachea and esophagus: upper airway obstruction and polyhydramnios. We report the first documented occurrence of superior vena cava syndrome and hypoxic ischemic encephalopathy associated with a massive, right-sided cervical teratoma. This case highlights that when cervical teratomas are right-sided and sufficiently large, they can extend inferiorly and compromise central venous return to the heart. This unique presentation would likely have required fetal surgical excision to avoid catastrophic cerebral injury.

[EXIT: Experiences from Karolinska University Hopsital]. / EXIT ­ säkraste förlossningsmetod för foster med livshotande luftvägshinder - Samlade erfarenheter från Karolinska universitetssjukhuset.

The main, but not sole, indication for an Ex-utero Intrapartum Treatment (EXIT) delivery is an airway obstruction due to either laryngeal atresia or tumors in the head and neck region. Here we present our Institution's experience with eleven cases: three teratomas, four lymphatic malformations, two laryngeal atresias and two dermoid cysts. The EXIT procedure was used to secure the fetal airway while maintaining uteroplacental gas exchange and fetal hemodynamic stability through the umbilical circulation. Five fetuses required tracheostomy. Only one fetal death occurred due to extensive growth of a teratoma preventing us from establishing an airway. No other fetal or major maternal complication occurred. The EXIT procedure is a complex procedure and these rare cases should be referred to a center with a dedicated and experienced multidisciplinary team.

Massive Fetal Transfusion During an Emergency Ex Utero Intrapartum Treatment for a Congenital Infantile Fibrosarcoma: A Case Report.

Although originally described to assist airway management of fetal congenital malformations with life-threatening airway obstruction, the indications for an ex utero intrapartum treatment (EXIT) have expanded to include surgical resection of lesions that are potentially incompatible with life in the absence of uteroplacental circulatory support. We describe the case of an infantile fibrosarcoma (IFS) that presented with fetal hydrops and was successfully managed with an emergency EXIT that necessitated the initiation of a massive fetal blood transfusion both with and without the support of uteroplacental circulation.

Multidisciplinary management of congenital giant head and neck masses: Our experience and review of the literature.

BACKGROUND: Large fetal head and neck (HN) masses can be life-threatening at birth and postnatally owing to airway obstruction. The two most frequent congenital masses that may obstruct the airway are lymphatic malformation (LM) and teratoma. The aim of this paper was to evaluate the results of our experience in the management of giant congenital HN masses and to conduct a literature review. METHODS: The study involved a consecutive series of 13 newborns (7 females) affected by giant HN masses. Prenatal diagnosis was achieved by means of ultrasound (US) and fetal magnetic resonance imaging (MRI). Delivery was performed by means of EXIT procedure in case of radiological evidence of airway obstruction. In the postnatal period all feasible therapeutic options (surgery, sclerotherapy, medical therapy) were discussed and adopted by a multidisciplinary team. Twelve patients underwent surgery and one received Rapamycin for one month, with consequent surgical resection owing to increasing size of the mass. RESULTS: The histopathological diagnosis was LM in 11 cases and teratoma in 2 cases. Airway obstruction was solved in 11 cases; 2 LM patients required a tracheotomy because of persistent airway obstruction. Major complications were flap necrosis (one patient) and facial nerve palsy (2 cases). Recurrence occurred in 5 patients. CONCLUSIONS: The management of congenital HN masses is always challenging and necessarily requires an interdisciplinary approach. Current therapeutic options include surgery, sclerotherapy, medical therapy or a combination of them. When they are large enough to obstruct the airway, a patient-centered approach should guide timing and modality of treatment. LEVEL OF EVIDENCE: IV.

Long-term outcome of pre- and perinatal management of congenital head and neck tumors and malformations.

INTRODUCTION: Congenital head and neck pathology may cause direct postnatal airway obstruction. Prenatal diagnosis facilitates safe delivery with pre- and perinatal airway assessment and management and Ex-Utero-Intrapartum-Treatment (EXIT) if necessary. Fetoscopic airway evaluation can optimize the selection of patients in need of an EXIT procedure. METHODS: Description of 11 consecutive fetuses, born with a potential airway obstruction between 1999 and 2011 and treated at the University Hospitals Leuven, with a long-term follow-up until 2018. An algorithm including fetoscopic airway evaluation is presented. RESULTS: In utero imaging revealed seven teratomas, one fourth branchial pouch cyst, one thymopharyngeal duct remnant, one lymphatic malformation and one laryngeal atresia. A multidisciplinary team could avoid EXIT in eight patients by ultrasonographic (n = 2) or fetoscopic (n = 6) documentation of accessible airways. Three patients needed an EXIT-to-airway-procedure. Neonatal surgery included tracheostomy during EXIT (n = 2) and resection of teratoma (n = 7) or branchiogenic pathology (n = 3). All patients do well at long-term (minimum 54 months) follow-up. CONCLUSIONS: Combining prenatal imaging and perinatal fetoscopy, EXIT-procedure and neonatal surgery yields an optimal long-term outcome in these complex patients. Fetoscopy can dramatically reduce the number of EXIT-procedures.

[Congenital cysts and fistulas on the neck in adults]. / Kystes et fistules congenitaux du cou chez l'adulte.

Cervical congenital malformations are relatively common in children. They can also be found in adults. The embryological development of the cervical region is closely related to the branchial clefts. This must be a diagnosis made by elimination; a cervical tumor must evoke the diagnosis of cancer. A cutaneous fistula or a cervical tumor, chronic or recent appearance in an inflammatory context, are the clinical signs. The thyroglossal duct cysts and the second branchial clefts cysts are the most common causes of median and lateral cervical cysts, respectively. Imaging contributes greatly to the orientation and diagnostic evaluation of the extent of the lesions. Treatment is initially based on antibiotic therapy and then on complete surgical excision, away from an infectious episode, the sole guarantee for the absence of local recurrence.

Fetal Head and Neck Masses: MRI Prediction of Significant Morbidity.

OBJECTIVE: The purpose of this study is to determine which MRI parameters of fetal head and neck masses predict high-morbidity neonatal outcomes, including ex utero intrapartum treatment (EXIT) procedure. MATERIALS AND METHODS: This retrospective study (2004-2016) included parameters of polyhydramnios (based on largest vertical pocket), mass effect on the trachea, mass midline extension, and morphologic grade and size of masses. The morbid cohort included those requiring an EXIT procedure, difficult intubation at delivery, or lethal outcome. Predictive modeling with a multivariable logistic regression and ROC analysis was then performed. RESULTS: Of 36 fetuses, five were delivered by EXIT procedures, there was one neonatal death within 12 hours after delivery, and another neonate required multiple intubation attempts. The remaining 29 fetuses were delivered at outside institutions with no interventions or neonatal morbidity. The largest vertical pocket and mass effect on the trachea were selected as independent predictors by the logistic regression. The cross-validated ROC AUC was 0.951 (95% CI, 0.8795-1). CONCLUSION: The largest vertical pocket measurement and mass effect on the trachea were the most contributory MRI parameters that predicted significant morbidity in fetuses with masses of the face and neck, along with other significant parameters. These parameters predict significant morbid neonatal outcomes, including the need for EXIT procedures.

Clinical and dermoscopic characteristics of congenital melanocytic naevi.

BACKGROUND: Prompted by the limited data, we conducted this study to gather more information on dermoscopic features of CN in children, in order to optimize clinical care and management. MATERIALS AND METHODS: All children with congenital nevi (CN) attending our Pediatric Pigmented Skin Lesion Unit during a 2-year period were included in the study. Clinical data were collected, and all children underwent clinical and dermoscopic examination. Dermoscopic patterns and specific features were recorded. RESULTS: Three hundred and thirty CN were examined in a population of 276 children, aged from 6 months to 14 years. The majority (85.14%) had only one congenital naevus, and 43.12% had a family history of congenital nevi. Children with multiple congenital nevi were more likely to have a positive family history of a CN (P = 0.012). Only, in 23 children, neurological/developmental abnormalities were reported. Small CN were the commonest in our cohort (167) followed by the medium-sized (160), whereas large CN (>20 cm) were only three. Thirty-eight CN were located on the volar skin. The globular was the commonest dermoscopic pattern, followed by the reticular, whereas the parallel furrow pattern was the commonest pattern on palms and soles. CN on the trunk were more likely to be globular on the limbs, and reticular and homogeneous on the head and neck (P < 0.001). The commonest dermoscopic findings were haloed and target globules, blotches and perifollicular hypopigmentation, whereas globules and dots around cristae on volar skin. CN located on the limbs were more likely to demonstrate an atypical network (P = 0.001) and a target network with globules (P = 0.020), whereas haloed and target globules (P < 0.001), blotches (P = 0.023) and dots (P = 0.004) were found with an increased frequency in CN on the trunk. CONCLUSIONS: Given that there is much controversy on the management and accurate classification of CN, our findings may provide useful information.

Cervical ganglioneuroblastoma in a new born Japanese Black calf.

This case report describes a congenital ganglioneuroblastoma in a 38-day-old male Japanese Black calf. The cervical multinodular mass was present at birth and grew rapidly. The cut surface was pale gray-to-yellow and had a gelatinous appearance. Hemorrhagic cysts of various sizes were observed in the nodule. Histologically, the mass contained clusters of neuroblastic cells, ganglionic cells, and Schwann-like cells. Immunohistochemically, the ganglionic cells showed strong positivity for neuron-specific enolase, neurofilament, synaptophysin, and chromogranin A, whereas the Schwann-like cells strongly expressed S-100, glial fibrillary acidic protein, and vimentin. Ultrastructurally, neurosecretory granules resembling catecholamine were observed in the neuroblastic and Schwann-like cells. Based on the pathology, the diagnosis was congenital cervical nodular ganglioneuroblastoma.

Congenital Myoepithelial Carcinoma of Soft Tissue Associated With Cystic Myoepithelioma.

Myoepithelial neoplasms of soft tissue represent a heterogeneous group of lesions, encompassing both benign entities as myoepithelioma (ME) and highly aggressive tumors as myoepithelial carcinoma (MEC). We describe a case of pediatric soft tissue MEC with peculiar features that may lead to misdiagnosis: congenital onset and presence of a benign component with predominant cystic structure. Few cases of congenital MEC have been reported, but the coexistence of MEC with ME is even more rare, accounting for less than 1% of myoepithelial tumors. Moreover, an extensive cystic appearance had never been described in either ME or MEC of soft tissue. Despite several predictors of poor prognosis, the patient has been showing a favorable clinical course since the administration of ICpE (ifosfamide, cisplatin, and etoposide) chemotherapy. This report provides valuable information in the differential diagnosis of cystic congenital tumors and supports a possible efficacy of adjuvant combined treatment for patients with localized disease after surgery.