Congenital Tumors Research Articles

Pediatric Dorsal Intradural Extra-Medullary Epidermoid Cyst (Non-Dysraphic): An Illustrative Case with Literature Review

A spinal epidermoid cyst is a rare congenital tumour that may be associated with spinal dysraphism. Congenital spinal epidermoid cysts without spinal dysraphism are rare. Here we are reporting a rare and interesting case of thoracic Intradural extra-medullary epidermoid cyst not associated with spinal dysraphism. Epidermoid cysts (EC) represent less than 1.0% and are rarely seen as an intradural extra-medullary spinal cord tumor. Preoperative Clinico- Radiological assumption is important for surgical planning. Journal of National Institute of Neurosciences Bangladesh, January 2023;9(1):88-95

Fused Deposition Modeling Printed PLA/Nano β-TCP Composite Bone Tissue Engineering Scaffolds for Promoting Osteogenic Induction Function.

Large bone defects caused by congenital defects, infections, degenerative diseases, trauma, and tumors often require personalized shapes and rapid reconstruction of the bone tissue. Three-dimensional (3D)-printed bone tissue engineering scaffolds exhibit promising application potential. Fused deposition modeling (FDM) technology can flexibly select and prepare printed biomaterials and design and fabricate bionic microstructures to promote personalized large bone defect repair. FDM-3D printing technology was used to prepare polylactic acid (PLA)/nano β-tricalcium phosphate (TCP) composite bone tissue engineering scaffolds in this study. The ability of the bone-tissue-engineered scaffold to repair bone defects was evaluated in vivo and in vitro. PLA/nano-TCP composite bone tissue engineering scaffolds were prepared using FDM-3D printing technology. The characterization data of the scaffolds were obtained using relevant detection methods. The physical and chemical properties, biocompatibility, and in vitro osteogenic capacity of the scaffolds were investigated, and their bone repair capacity was evaluated using an in vivo animal model of rabbit femur bone defects. The FDM-printed PLA/nano β-TCP composite scaffolds exhibited good personalized porosity and shape, and their osteogenic ability, biocompatibility, and bone repair ability in vivo were superior to those of pure PLA. The merits of biodegradable PLA and bioactive nano β-TCP ceramics were combined to improve the overall biological performance of the composites. The FDM-printed PLA/nano-β-TCP composite scaffold with a ratio of 7:3 exhibited good personalized porosity and shape, as well as good osteogenic ability, biocompatibility, and bone repair ability. This study provides a promising strategy for treating large bone defects.

Fetal Oropharyngeal Teratoma: A Rare Tumour: A Case Report

Teratomas generally constitute 25-30% of congenital tumours with oropharyngeal tumours being very rare. The tumor typically arises from the palato-pharyngeal region around the basishenoid. Incidence is in 1 in 35,000-200,000 of live births. Most head and neck teratomas are incidental findings on routine second-trimester ultrasonography and are usually associated with polyhydramnios in 40% of cases. This case was also diagnosed with fetal oropharyngeal tumour at 20 weeks USG and was associated with polyhydramnios. After counselling, couple opted for termination of pregnancy in view of poor prognosis. After expulsion, products of conception were sent for histopathology and karyotyping.

Tumor lysis syndrome in premature infant prompting early resection of a large sacrococcygeal teratoma: a case report

BackgroundSacrococcygeal teratomas (SCTs) are the most common congenital neoplasm and often require resection soon after birth. There are rare reports of cardiac arrest during surgery due to manipulation of the tumor triggering secondary necrosis and hyperkalemia.Case presentationThis case describes a very preterm infant with a SCT who develops spontaneous preoperative tumor lysis syndrome (TLS). The medical team utilized rasburicase and the patient underwent total gross resection at 40 h of life.ConclusionsWe emphasize the importance of the early recognition and management of tumor lysis syndrome in SCT with rasburicase, aggressive management of hyperkalemia and consideration of early resection of SCTs even in the case of a very premature infant.

Congenital Intracranial Teratoma: Management Challenges!

AbstractCongenital brain tumors are extremely rare. Among them teratomas are the most common. They make up one-third of all congenital brain tumors. Late diagnosis, poor prognosis, and majority being delivered by cesarean section (subjecting the mother to increased morbidity) add to the complexities and challenges of the case. We report a rare case of a massive congenital brain tumor diagnosed prenatally on ultrasound. Because of the poor prognosis and associated craniomegaly, pregnancy termination was contemplated at 28 weeks aiming at vaginal delivery, despite a high probability of an eventual cesarean delivery due to the associated macrocrania. Intrapartum second stage of labor was protracted due to nondescent of the large head; however, providentially there was timely skull rupture of the fetus facilitating a vaginal delivery. The cerebral tumor was confirmed at autopsy to be an immature teratoma. There were no other associated malformations. Ultrasound has emerged as major modality in prenatal diagnosis aiding the antenatal preparation of the prospective parents and the multidisciplinary team for the poor outcome. The knowledge gained and anticipated prognosis help immensely in planning the management, thereby avoiding subjecting the woman to cesarean section and its morbidity.

Congenital torticollis in an infant

Introduction: Fibromatosis colli is an uncommon congenital infantile tumour occurring in 0.4–1.3% of live births. They are non-malignant, however early detection and treatment are crucial. This is because, if left untreated, fibromatosis colli tumours can cause permanent disfigurements to the skull and spine of the infant. The main aetiology that causes congenital fibromatosis colli is believed to be muscle injury, either intrauterine or during childbirth. A common symptom of congenital fibromatosis colli is head tilting toward the affected side. Case report: This case report discusses the management of an 82-day-old infant with fibromatosis colli. Discussion: Clinical examination including palpation and examination of the range of movement of the sternocleidomastoid muscle is the key to diagnosing fibromatosis colli. Early physiotherapy represents the first-line treatment in affected infants.

Rare and Unusual Cause of Adults Epistaxis

Mature teratomas, or teratoid tumors, or benign teratomas, of the nasal cavity and sinuses are exceptional the diagnosis is histopathological and shows within the lesion different types of tissue: fat, glial, muscular, cartilaginous, bone and respiratory. Teratomas are rare congenital neoplasms that originate from pluripotent cells. In this article, we report the first case of a nasal teratoma. We also discuss methods for diagnosing and treating upper respiratory teratomas, and include a brief literature review.

Congenital epulis in a female newborn

Introduction: Congenital epulis, also known as Neumann’s tumor, is a benign soft-tissue lesion with an unclear cause. Congenital epulis manifests as a pink lump with a smooth surface in the mucosa of the maxillary or mandibular alveolar ridges. The lesion is more common in women and occurs more commonly in the maxillary alveolus than in the mandibular alveolus. Multiple theories have been proposed regarding the causes of congenital epulis; however, the etiology is still ambiguous. Case Report: A 1-day-old female neonate was delivered via normal spontaneous vaginal delivery and referred to our hospital as an oral mass for surgical evaluation and intervention. It was discovered on a detailed prenatal ultrasound. Postnatal brain magnetic resonance imaging (MRI) was performed, the mass was characterized, laser excision was performed, and a histopathological examination confirmed the diagnosis. The patient underwent postoperative follow-up and was normal. Conclusion: Congenital epulis is a rare, neonatal, congenital, and benign tumor. It requires removal by either surgical resection or laser excision owing to problems in feeding and respiration. Clinicians should always perform routine oral examinations for all newborns for the early diagnosis of this gingival tumor before it interferes with oral function.

Fetal Laryngoscopy and Endoscopic Tracheal Intubation to Avoid ex utero Intrapartum Treatment in the Management of Fetuses with Suspected Airway Obstruction

Introduction: Large congenital neck tumors can cause neonatal death due to airway obstruction. The aim of this study was to report outcomes of the first cohort of fetuses with neck masses and suspected airway obstruction managed with fetal laryngoscopy (FL) and fetal endoscopic tracheal intubation (FETI) to secure fetal airways and avoid ex utero intrapartum treatment (EXIT) procedure. Methods: A prospective observational cohort of consecutive fetuses with neck masses that were candidates for an EXIT procedure due to suspicion of laryngeal and/or tracheal occlusion on ultrasonographic (US) or magnetic resonance imaging (MRI) examination were recruited for FL in a tertiary referral center in Queretaro, Mexico. FETI was performed if the obstruction was confirmed by FL. Maternal and perinatal outcomes were evaluated. Results: Between January 2012 and March 2023, 35 cases with neck masses were evaluated. Airway obstruction was suspected in 12/35 (34.3%), either by US in 10/35 (28.6%) or by fetal MRI in 2/35 (5.7%). In all cases, FL was successfully performed at the first attempt at a median gestational age (GA) of 36⁺⁵ (range, 33⁺⁵–39⁺⁶) weeks^+days, with a median surgical time of 22.5 (12–35) min. In 4 cases, airway patency was confirmed during FL and an EXIT procedure was avoided. In 8/12 cases (66.7%), airway obstruction was confirmed during fetoscopy and FETI was successfully performed at a median GA of 36⁺³ (33⁺²–38⁺⁵) weeks^+days, with a median surgical time of 25.0 (range, 12–45) min. No case required an EXIT procedure. All patients underwent conventional cesarean delivery with no maternal complications and all neonates were admitted to the neonatal intensive care unit with a correctly positioned endotracheal tube (ETT) immediately after delivery. Three neonatal deaths (37.5%) were reported due to postnatal unplanned extubation, failed ETT replacement, and tumoral bleeding. Conclusion: In fetuses with neck masses and suspected airway obstruction, FL and FETI are feasible and could replace EXIT procedures with good maternal and perinatal outcomes.

Hyperandrogenism and Its Possible Effects on Endometrial Receptivity: A Review.

Endometrial receptivity is a state of the endometrium defined by its readiness for embryo implantation. When the receptivity of the endometrium is impaired due to hyperandrogenism or androgen excess, this condition can lead to pregnancy loss or infertility. Hyperandrogenism encompasses a wide range of clinical manifestations, including polycystic ovary syndrome (PCOS), idiopathic hirsutism, hirsutism and hyperandrogaenemia, non-classical congenital adrenal hyperplasia, hyperandrogenism, insulin resistance, acanthosis nigricans (HAIR-AN), ovarian or adrenal androgen-secreting neoplasms, Cushing's syndrome, and hyperprolactinaemia. Recurrent miscarriages have been shown to be closely related to elevated testosterone levels, which alter the endometrial milieu so that it is less favourable for embryo implantation. There are mechanisms for endometrial receptivity that are affected by excess androgen. The HOXA gene, aVβ3 integrin, CDK signalling pathway, MECA-79, and MAGEA-11 were the genes and proteins affect endometrial receptivity in the presence of a hyperandrogenic state. In this review, we would like to explore the other manifestations of androgen excess focusing on causes other than PCOS and learn possible mechanisms of endometrial receptivity behind androgen excess leading to pregnancy loss or infertility.

A rare case of isolated congenital corneal dermoid: Literature review and histopathologic correlation

A dermoid cyst is a benign congenital tumor that arises due to the entrapment of ectodermal elements along the line of embryonic closure. Limbal dermoid is the most common dermoid reported in the literature. However, isolated corneal dermoid has rarely been described. Here, we present a case of a 19-year-old man who presented with a giant isolated congenital corneal dermoid, which is distinct from the typical limbal dermoid histopathologically and in terms of management.

Cystic teratoma of the pancreas

Cystic teratoma also called dermoid cyst, are congenital benign germinal tumors most commonly found in the ovaries and testes. Pancreatic localization is the least common site of presentation, which make its preoperative diagnosis even more challenging. Herein, we report the case of an 8-year-old girl who presented with abdominal pain localized in the epigastrum. The CT scan showed a well-defined heterogenous cystic mass in the head of the pancreas. At surgery, the entire mass was excised. The diagnosis of a dermoid cyst was then confirmed macroscopically and by histopathology. The main goal of our case report is to show the rarity of this entity and to make a quick review of the literature.

Prosthetic rehabilitation of midface defect using two hollow component magnet retained silicone prosthesis: Case report

Body abnormalities that compromise form, function or aesthetics can make an individual incapable of leading a relatively normal life. Facial disfigurement may occur as a result of a congenital anomaly, trauma or tumor surgery. The defects can be rehabilitated surgically or with the help of prosthesis. Many situations due to size or the location of defect or because of patient’s medical condition, surgical reconstruction is not possible. In these cases rehabilitation is done using maxillofacial prosthesis. This case report describes a complete prosthetic rehabilitation of mid face defect secondary to surgery. The intraoral maxillary defect was rehabilitated using velopharyngeal prosthesis and extraoral cheek defect was corrected using custom made two component hollow silicone prosthesis. The rehabilitation restored mastication, speech, swallowing, aesthetics as well as social and psychological status of the patient.

Transorbital neuroendoscopy-assisted resection of a giant optic pathway glioma in a neonate.

Congenital giant orbital tumors in infancy are relatively rare, especially when the tumors are associated with significant intracranial extension. We describe the use of a transorbital neuroendoscopy-assisted resection of such a lesion. While this approach is increasingly gaining popularity for certain anterior and middle skullbase lesions in adults, this report represents the youngest patient reported on where this minimally invasive approach has been successfully used to resect the intracranial tumor. This surgical approach obviated the need for a separate craniotomy, with the additional benefit of minimizing blood loss.

Clinical Characteristics of Pediatric Dermoid Cyst Patients

Purpose: The characteristics of pediatric dermoid cyst patients.Methods: This was a retrospective chart review of 64 dermoid cyst patients (65 eyes) aged < 18 years.Results: Limbal dermoids and conjunctival dermolipomas were observed in 49 and 16 eyes (48 and 16 patients), respectively. Limbal dermoids were more common in the left eye (61%), particularly on the inferotemporal side (80%). Three (6%) of the patients were diagnosed with Goldenhar syndrome. The horizontal diameter (3.76 ± 1.30 mm) was greater than the vertical diameter (3.74 ± 1.30 mm). Most of the lesions were yellow (35.2%) in color, mildly elevated (n = 19, 55.9%), and not visible when the eyes were closed. The mean best corrected visual acuity was 0.8 ± 0.2 in 23 patients, with mean astigmatism and mean corneal astigmatism values of -2.1 ± 2.2 diopters (D) and -2.0 ± 1.1 D, respectively. None of the conjunctival dermolipoma patients had any ocular history. The left eye (75%), particularly the temporal and superiotemporal conjunctival fornix, was the most commonly affected site. The mean best corrected visual acuity was 0.9 ± 0.0 in seven patients, with an average astigmatism of -0.3 ± 0.2 D.Conclusions: Dermoid cysts are congenital benign tumors that may be associated with congenital diseases. They vary in size, location, color, and extent of invasion, and may cause functional problems, such as astigmatism and amblyopia. Therefore, timely surgical treatment is desirable.

Fetal Lung Interstitial Tumor (FLIT): Review of The Literature.

Fetal lung interstitial tumor (FLIT) is an extremely rare pediatric lung tumor that shares radiological features with congenital pulmonary malformations (cPAM) and other lung neoplasms. A review of the literature, together with the first European case, are herein reported. A systematic and manual search of the literature using the keyword "fetal lung interstitial tumor" was conducted on PUBMED, Scopus, and SCIE (Web of Science). Following the PRISMA guidelines, 12 articles were retrieved which describe a total of 21 cases of FLIT, and a new European case is presented. A prenatal diagnosis was reported in only 3 out of 22 (13%) cases. The mean age at surgery was 31 days of life (1-150); a lobectomy was performed in most of the cases. No complications or recurrence of disease were reported at a mean follow-up of 49 months. FLIT is rarely diagnosed during pregnancy, may present at birth with different levels of respiratory distress, and requires prompt surgical resection. Histology and immunohistochemistry allow for the differentiation of FLIT from cPAM and other lung tumors with poor prognosis, such as pleuropulmonary blastoma, congenital peri-bronchial myofibroblastic tumor, inflammatory myofibroblastic tumor, and congenital or infantile fibrosarcoma.

Anesthetic management of congenital epulis in a newborn: a case report.

The authors report a case of a 4-day-old neonate with a large mass arising from the right upper gingival area and occupying most of the oral cavity who presented for surgery with a potentially difficult airway. Intubation was achieved uneventfully using a gaseous induction with an appropriate-size facemask and displacement of the epulis to allow cautious laryngoscopy. General anesthesia offers good airway protection and also alleviates the stress and pain associated with the surgery. Congenital epulis is a relatively rare congenital tumor of a newborn, which is one of the causes of difficult airways in neonates and children. However, after slight manipulation of the tumor, endotracheal intubation for the administration of general anesthesia is attainable.

A Case of Infant-type Hemispheric Glioma with NTRK1 fusion (P9-13.003)

<h3>Objective:</h3> Not applicable <h3>Background:</h3> The incidence of childhood central nervous system tumors in infants is about 6 per 100,000 children with glioma having the highest incidence at 1.38 per 100,000. A study by Wu et al. showed recurrent fusion of the <i>NTRK</i> gene in 10% of non-brainstem high grade glioma in very young children suggesting an oncogenic effect of the <i>NTRK</i> fusion genes. Here we present a rare case of a full-term neonate who was noted to have widely splayed sutures and a bulging fontanelle at birth who was found to have infant-type hemispheric glioma with <i>NTRK1</i> fusion. <h3>Design/Methods:</h3> Not applicable <h3>Results:</h3> A full-term infant with normal prenatal course, including a 20-week anatomy scan, was born with widely splayed sutures, bulging anterior fontanelle and head circumference &gt;99^th percentile (40 cm). Head ultrasound showed severe hydrocephalus and a large intracranial mixed echogenicity lesion in the left cerebral hemisphere with hemorrhage. He had sustained leftward gaze, and video EEG revealed seizures. MRI demonstrated a large 6×7cm lesion, hydrocephalus with subfalcine herniation and mass effect on the brainstem (figure, A–B). He underwent biopsy and ventriculoperitoneal shunt placement. MRI 2 weeks later showed tumor enlargement, obstructive hydrocephalus and severe brainstem compression (figure, C–D). Pathology was consistent with infant-type hemispheric glioma with <i>NTRK1</i> fusion. Due to the dismal prognosis, the family prioritized palliative care. <h3>Conclusions:</h3> Infant-type hemispheric glioma, previously termed glioblastoma (GBM), is a rare, rapidly-growing congenital tumor, and prenatal imaging is often normal. Mixed-age hemorrhages and diffusion restriction is suggestive of the diagnosis. The neurotrophic tyrosine receptor kinase (NTRK) genes <i>NTRK1, NTRK2</i>, and <i>NTRK3</i> are involved in infant-type hemispheric gliomas and are typically high grade in histology. A recent study by Torre et al. showed most <i>NTRK-</i>fused gliomas were hemispheric and had a higher prevalence in non-brainstem high grade gliomas in patients younger than 3 years old. <b>Disclosure:</b> Dr. Garcia has nothing to disclose. Dr. Bell has nothing to disclose. Dr. Nelson has nothing to disclose. Dr. Miller has nothing to disclose. Dr. Segal has nothing to disclose.

Congenital peribronchial myofibroblastic tumor (CPMT): a case report with long term follow-up and next-generation sequencing (NGS)

BackgroundCongenital peribronchial myofibroblastic tumor (CPMT) is an extremely rare lung disease in infants. It shows benign behavior and has a favorable survival after surgical treatment. CPMT was reported only in cases. Here, we report the longest follow-up known case of CPMT and review the clinical, radiographic and histopathological features of the published literature.Case presentationUltrasound examination at 30 weeks of gestational age of a healthy 29-year-old female revealed a solid mass in the left lung. Computed tomography (CT) revealed a mass in the left lower lobe. The tumor was removed by lobectomy and pathologically diagnosed with CPMT. The tumor was composed of cartilage, spindle cells and oval cells. Vimentin was strongly positive. Smooth muscle actin (SMA) was positive in the spindle cells. The histopathologic and immunohistochemical features were similar to those in the literature. No ETV6-NTRK3 fusion or ALK rearrangement was detected. Gene mutations in JAK2 and SMO were detected by NGS. She is currently alive for 8 years with no evidence of disease recurrence.ConclusionsCPMT is a rare lung tumor in infants. Surgical treatment is recommended for CPMT. The prognosis after successful surgery is favorable. The final diagnosis was histopathologic findings. Due to its cellularity, mitotic activity and rapid growth, long-term follow-up should be strengthened. The present patient is alive and well for 8 years after the surgery without recurrence. Gene mutations in JAK2 and SMO were detected, which may be associated with the formation of CPMT.

Congenital granular cell tumors

Congenital granular cell tumors are infrequently occurring masses occurring on a neonate's gingiva/alveolus. These lesions are benign with no noted malignant transformation; treatment like excision is based on its effect on the neonate's respiratory ability and/or nutritional intake. Granular cell tumor of the newborn has different immunohistochemical features than the adult form of this lesion. We present a case of a rare granular cell tumor in a newborn, its treatment and review of the literature, including demographics, histopathology, and operative treatment.