Ganglioneuromatous polyposis associated with type 2 B multiple endocrine neoplasia (MEN 2B) - case report.

Multiple endocrine neoplasia type 2B (MEN 2B) is a rare autosomal dominant hereditary cancer syndrome which is characterized by the appearance of medullary thyroid carcinoma (MTC), pheochromocytoma, parathyroid adenomas, ganglioneuromas of the digestive tract, and musculoskeletal abnormalities. The case is presented of a 31-year-old male patient with numerous polyps in the colon described as ganglioneuromas which are ectodermal neoplasms emerging from a proliferation of ganglionic cells of the sympathetic nervous system. The results show elevated levels of normetanephrine, which is an endogenous catecholamine metabolite, and has high diagnostic sensitivity as well as specificity in pheochromocytoma detection. The patient underwent partial thyreoidectomy due to a nodular goiter. He was admitted to the Department of Gastroenterology to lead a diagnostic pathway towards MEN 2B.

Rare adrenal incidentaloma: ganglioneuroma.

Ganglioneuroma (GN) is a rare, benign neurogenic tumor that develops from sympathetic ganglion cells. It occurs mainly in the retroperitoneal region. Adrenal localization is rare. We report a case of adrenal ganglioneuroma in a 22-year-old woman with no previous history of the disease. The tumor was discovered incidentally on an entero scan ordered as part of the etiological assessment for chronic diarrhea. The diagnosis was confirmed by pathological examination.

A head-to-head comparison of computed tomography- and magnetic resonance imaging-based radiomics in assessing pediatric peripheral neuroblastic tumor cell behavior.

PURPOSE: To compare the performance of radiomics from contrast-enhanced computed tomography (CECT) and non-contrast magnetic resonance imaging (MRI) in assessing cellular behavior in pediatric peripheral neuroblastic tumors (PNTs). MATERIALS AND METHODS: A retrospective analysis of 81 PNT patients who underwent venous phase CECT, T1-weighted imaging (T1WI), and T2-weighted imaging (T2WI) scans was conducted. The patients were classified into neuroblastoma and ganglioneuroblastoma/ganglioneuroma based on their pathological subtypes. Additionally, they were categorized into favorable histology and unfavorable histology according to the International Neuroblastoma Pathology Classification (INPC). Tumor regions of interest were segmented on CECT, axial T1WI, and axial T2WI images, and radiomics models were developed based on the selected radiomics features. Following five-fold cross-validation, the performance of the radiomics models derived from CECT and MRI was compared using the area under the receiver operating characteristic curve (AUC) and accuracy. RESULTS: For discriminating pathological subtypes, the AUC for CECT radiomics models ranged from 0.765 to 0.870, with an accuracy range of 0.728 to 0.815. In contrast, the AUC for MRI radiomics models ranged from 0.549 to 0.748, with an accuracy range of 0.531 to 0.778. Regarding the discrimination of INPC subgroups, the AUC for CECT radiomics models ranged from 0.503 to 0.759, with an accuracy range of 0.432 to 0.741. Meanwhile, the AUC for MRI radiomics models ranged from 0.512 to 0.739, with an accuracy range of 0.605 to 0.815. CONCLUSIONS: CECT radiomics outperforms non-contrast MRI radiomics in evaluating pathological subtypes. When assessing INPC subgroups, CECT radiomics demonstrates comparability with non-contrast MRI radiomics.

Large retroperitoneal ganglioneuroma revealed by a left ovarian endometrioma: A case report.

Uncommon in nature, retroperitoneal ganglioneuroma represents a neuroblastic benign tumor, predominantly manifesting in young adults, with a notable predilection for females. Often asymptomatic, the condition is frequently diagnosed incidentally due to delayed growth. Clinical manifestations arise primarily from the compression exerted on neighboring organs and vessels. The exclusive curative recourse lies in surgical intervention, underscoring the challenging task of achieving complete tumor excision, particularly when the ganglioneuroma attains considerable development and encapsulates significant retroperitoneal vessels. In this instance, we elucidate a case involving a 33-year-old woman, who had previously undergone a triple valve replacement due to rheumatic valvular disease, presenting persistent pelvic pain, unearthing a substantial asymptomatic retroperitoneal ganglioneuroma concomitant with an ovarian endometrioma. A laparotomy procedure was conducted, and to achieve a comprehensive excision of the mass, a meticulous intratumoral circular dissection of the prominent vessels, notably the superior mesenteric artery and celiac trunk, was undertaken. No local recurrence has been reported, 6 months after surgery. The significance of an experienced and well-trained surgical staff is underscored in addressing the complexities associated with this condition.

Massive Silent abdominal ganglioneuroma in the setting of non-Hodgkin lymphoma : A rare case report.

INTRODUCTION AND IMPORTANCE: Ganglioneuroma is a rare benign neuroblastic tumor originating from sympathetic ganglion cells in the peripheral nervous system. It is often incidentally discovered during imaging studies and primarily affects children and young adults. CASE PRESENTATION: We present a case report of a 21-year-old female diagnosed with non-Hodgkin lymphoma who had an abdominal mass incidentally detected during imaging, Initially mistaken for lymphoma in the setting of the primary diagnose. After the chemotherapy for the lymphoma, the mass did not response to the treatment, so the mass was surgically excised, and histopathological examination confirmed the diagnosis of ganglioneuroma. The patient responded well to treatment for lymphoma and remains in good condition without signs of recurrence. CLINICAL DISCUSSION: To the best of our knowledge, this is the first case that describes an association between an intraabdominal ganglioneuroma and non-Hodgkin's lymphoma. CONCLUSION: This case highlights the importance of considering ganglioneuroma as a differential diagnosis when evaluating abdominal masses in patients with lymphoma.

Spinal ganglioneuroma with extension to the brachial plexus. The challenges for total surgical excision, a case report.

INTRODUCTION: Ganglioneuromas are benign neurogenic tumors that arise from the sympathetic ganglia. They are less aggressive compared to the more immature neuroblastomas and ganglioneuroblastomas but can grow to exert mass effect on surrounding tissues. PRESENTATION OF CASE: A 7 years old girl who presented with progressive quadriplegia for 4 months. On examination, she had a right supra-clavicular mass with reduced power in the right hand than the left. Power in the lower limbs was also reduced with hyper-reflexia, clonus and Babinski positive. Laboratory investigations were unremarkable and Chest X-Ray showed a widened mediastinum. Magnetic Resonance Imaging (MRI) scan revealed an extra-medullary spinal tumor at C6/C7 extending laterally on the right through the C6/7 neuro-foramen to the para-spinal tissue and brachial plexus. A C6/7 laminectomy with Spinal cord decompression by partial resection of the tumor was done. Histology of the resected tissue showed ganglioneuroma. DISCUSSION: The presentation of Ganglioneuromas is usually asymptomatic until they are huge enough to exert mass effect on surrounding tissue. Most are located in the posterior mediastinum, retro-peritoneum and neck. Due to this, it may be very challenging to achieve total resection especially when they surround major vessels or nerves. A multi-disciplinary approach is needed for the best surgical outcomes but this is not always realized in our setting. CONCLUSION: In resource limited settings, more collaboration and training is needed to realize appropriate management of complex surgical conditions. Although complications are not uncommon, total surgical excision is necessary to prevent recurrence and progression of Ganglioneuromas.

Solitary Ganglioneuromatous Hamartoma Tongue in a Newborn - A Rare Entity.

Ganglioneuromatous hamartoma is a benign tumour of autonomic ganglia with very few cases reported in head and neck region. In this report, we are presenting a case of ganglioneuromatous hamartoma in a 20 day old female child who presented with a tongue mass. She underwent a surgical excision and the definitive diagnosis was made by histopathology. This case reports discusses presentation and management of a case of ganglioneuromatous hamartoma.

Laryngeal Ganglioneuromatosis in a Child With Multiple Endocrine Neoplasia Type 2B (MEN2B): Case Report and Review of Literature.

Multiple Endocrine Neoplasia type 2B (MEN2B) is an autosomal dominant cancer syndrome caused by a mutation in rearranged during transfection (RET) proto-oncogene and includes medullary thyroid carcinoma, pheochromocytoma, gastrointestinal neuromas, and mucosal ganglioneuromas. Medullary thyroid carcinoma is the major cause of mortality in MEN2B syndrome. Medullary thyroid carcinoma can often appear during the first years of life. While mucosal neuromas in MEN2B are common, laryngeal neuromas are extremely rare. We present a third case of a pediatric patient with a laryngeal neuroma localized to the left true vocal cord and conduct a literature review of vocal cord neuromas in MEN2B patients.

Combined unilateral biportal endoscopy and video-assisted thoracoscopic surgery for complete excision of a T3-T4 right ganglioneuroma.

Ganglioneuroma (GN) is a rare solid neoplasm developing from neural crest cells of sympathetic ganglia or adrenal medulla. It usually presents as an asymptomatic mass in the retroperitoneal space and mediastinum. Resection through open surgery or minimal access is recommended. The video illustrates the case of a 23-year-old female with an incidental finding of thoracic GN. The authors performed a combined, staged approach to ensure complete resection, which involved unilateral T3-4 biportal endoscopy (UBE) for rhizotomy and nerve root decompression, followed by video-assisted thoracoscopic surgery (VATS) for complete excision. The procedure was uneventful, with full recovery and no postoperative complications. The video can be found here: https://stream.cadmore.media/r10.3171/2024.2.FOCVID23210.

A Preliminary Study on the Application of Contrast-Enhanced Ultrasonography in Children With Peripheral Neuroblastic Tumors.

The purpose of this study was to retrospectively analyze the characteristics of contrast-enhanced ultrasound (CEUS) images and quantitative parameters of time-intensity curves (TICs) in children's peripheral neuroblastic tumors (pNTs). By comparing the imaging features and quantitative parameters of the TICs of neuroblastoma (NB) and ganglioneuroblastoma (GNB) patients, we attempted to identify the distinguishing points between NB and GNB. A total of 35 patients confirmed to have pNTs by pathologic examination were included in this study. Each child underwent CEUS with complete imaging data (including still images and at least 3 min of video files). Twenty-four patients were confirmed to have NB, and 11 were considered to have GNB according to differentiation. The CEUS image features and quantitative parameters of the TICs of all lesions were analyzed to determine whether there were CEUS-related differences between the two types of pNT. There was a significant difference in the enhancement patterns of the CEUS features (χ2 = 5.303, p < 0.05), with more "peripheral-central" enhancement in the NB group and more "central-peripheral" enhancement in the GNB group. In the TIC, the rise time and time to peak were significantly different (p < 0.05). The receiver operating characteristic curve showed that the probability of ganglion cell NB increased significantly after RT > 15.29, with a sensitivity of 0.636 and a specificity of 0.958. When the peak time was greater than 16.155, the probability of NB increased significantly, with a sensitivity of 0.636 and a specificity of 0.958. The CEUS features of NB and GNB patients are very similar, and it is difficult to distinguish them. Rise time and time to peak may be useful in identifying GNB and NB, but the sample size of this study was small, and the investigation was only preliminary; a larger sample size is needed to support these conclusions.

Robotic excision of a retrocaval ancient schwannoma: a case report.

We report a case of a robotic-assisted excision of a retrocaval ancient schwannoma. A 40-year-old female presented with generalized weakness and abdominal pain that led to the diagnosis of a retroperitoneal mass adjacent to the pancreas and inferior vena cava. Because of the clinical, imaging, and needle biopsy findings, the patient underwent an elective robotic-assisted retroperitoneal exploration. We provide an overview of the pathology and highlight the significance of utilizing a minimally invasive approach for excision of retroperitoneal masses.

Appendiceal ganglioneuroma incidentally found during resection of recurrent rectal cancer: case report and review of the literature.

Ganglioneuromas (GN) are benign neuroblastic tumors that arise from neural crest cells. Since they present with nonspecific symptoms, diagnosis is often incidental. We are reporting a case of an adult appendiceal GN incidentally found during rectal cancer surgery. A 42-year-old male was diagnosed with recurrent rectal cancer after experiencing urinary difficulties and buttock pain. A multiple-stage pelvic exenteration was carried out after neoadjuvant chemotherapy and chemoradiation. Prophylactic appendectomy was done during the course of surgery, and pathology reported an appendix with GN at the distal tip. GN are often found incidentally and rarely cause appendicitis. Depending on their location and size, they might become symptomatic. While there is some controversy on whether surgery is the treatment of choice for all GN, diagnosis is rarely apparent preoperatively, and all appendiceal masses should be resected.

Retroperitoneal Peripancreatic Ganglioneuroma Encasing the Celiac Trunk and Superior Mesenteric Artery.

A retroperitoneal ganglioneuroma is an exceptionally rare surgical entity, even more so in pancreaticoduodenal tumors. These well-differentiated neuroepithelial tumors originate in the neural crest, emerge in the sympathetic nervous system, and consist of ganglion cells and stromal Schwann cells. Generally, these tumors, despite being mostly benign, may be associated with venous or arterial vascular involvement. The symptomatology presented will depend on the mass effect due to tumor growth, and surgical excision is the only therapeutic option offered today to these patients. However, encapsulation of the main vessels represents a great surgical complexity. Various surgical approaches have been employed throughout history; however, the current preferred method is an open midline laparotomy, involving an extensive Kocher maneuver and an artery-first approach, aiming for an R0 resection of the tumor with total vascular preservation to the greatest extent possible. We present a case of an R2 resection involving a 95 mm x 85 mm retroperitoneal peripancreatic ganglioneuroma with double vascular involvement (celiac trunk and superior mesenteric artery). The procedure utilized an artery-first approach with total vascular preservation in a 17-year-old woman who had long-standing gastrointestinal symptoms due to the mass effect.

Ganglioneuroma Arising in Congenital Melanocytic Nevus in a Patient with Cardiac Anomalies: A Case Report.

A congenital melanocytic nevus is a benign melanocyte proliferation, that may be complicated by malignant transformation. We are reporting a three-year-old girl, who had a giant congenital melanocytic nevus on her back, that was treated by serial surgical excisions with tissue expander insertion. Histopathological examination confirmed the diagnosis of congenital melanocytic nevus with ganglioneuroma. Out of approximately 250 case reports on congenital melanocytic nevus, we identified only two reports of medium/large congenital melanocytic nevus with cutaneous ganglioneuroma. Due to the potential malignant transformation of congenital melanocytic nevus, reporting the features and characteristics of such rare findings may help in further understanding congenital melanocytic nevus, its associations, and prognosis.

Ganglioneuromas in Childhood: Hacettepe Experience With 70 Cases.

BACKGROUND: Ganglioneuromas (GNs) are rare benign peripheral neuroblastic tumors (PNTs). We shared our institutional experience with childhood GNs. METHODS: Records of the children with PNTs between January 1995 and December 2021 were reviewed, and cases with histopathological diagnoses of GN were identified. Clinical, laboratory, radiological, and histopathological findings, image-defined risk factors (IDRFs), procedures, and overall outcomes were recorded. RESULTS: Of 668 cases with PNTs, 70 (10.4%) had GNs. The median age was 7.4 years (range, 2.6-15.7 years) (girls/boys, 41/29). Common presenting complaints were abdominal pain and cough; 33/70 cases (47.1%) were diagnosed incidentally. Primary tumors were in the abdomen in 41/70, the thorax in 25/70, the neck in 3 cases, and the pelvis in one. The median tumor size was 6.5 cm (range, 1.4-17). Fifty cases (71.4%) were staged as INRG-L1; 20 cases with IDRFs (15 single, five >1) were staged as INRG-L2. Complete and partial tumor resections were performed in 58/70 and 6/70 cases, while 6 had no resection. The overall complication rate was 17.1% (11/64). At a median follow-up of 9 years, five were lost to follow-up; 65 were alive. One patient with gross residue underwent total resection due to progression 13 years after the surgery, and one in the unresected group was lost to follow-up. Ten other cases without a complete resection experienced no tumor progression. CONCLUSIONS: Ganglioneuromas are benign PNTs, and most are free of IDRFs. Even without complete resection, long-term outcomes are excellent. Guidelines should be devised considering the high surgical complication rates and benign course of GNs. LEVEL OF EVIDENCE: Case series, IV.

A case report of multimodal ultrasound imaging in the diagnosis of giant retroperitoneal ganglioneuroma.

Retroperitoneal ganglioneuroma is a rare benign tumor that is challenging in terms of clinical diagnosis. Computed tomography and magnetic resonance imaging are usually performed for diagnosis rather than convenient and inexpensive ultrasonography. Here, we present the case of a 21-year-old female patient who was diagnosed by multimodal ultrasound imaging and whose diagnosis was confirmed by ultrasound-guided core needle biopsy before surgery. We hope that this rare case will help clinicians and radiologists realize the advantages of multimodal ultrasound imaging in the diagnosis of retropeitoneal solid tumors, and reduce misdiagnosis.

A not so incidental 'incidentaloma' - pediatric ganglioneuroma-associated cerebellar degeneration and super-refractory status epilepticus: case report and literature review.

Paraneoplastic neurological disorders are rare in children, with paraneoplastic cerebellar degeneration (PCD) considered highly atypical. We describe a 13-year-old girl with progressive neurobehavioral regression, cerebellar ataxia, and intractable epilepsy presenting in super-refractory status epilepticus. After an extensive evaluation, her clinical picture was suggestive of probable autoimmune encephalitis (AE). Further diagnostic testing revealed a molecularly undefined neural-restricted autoantibody in both serum and CSF, raising suspicion over an adrenal mass previously considered incidental. Surgical resection led to a robust clinical improvement, and pathology revealed a benign ganglioneuroma. This report widens the spectrum of paraneoplastic manifestations of ganglioneuroma, reviews the diagnostic approach to antibody-negative pediatric AE, and raises important clinical considerations regarding benign and incidentally found tumors in the setting of a suspected paraneoplastic neurologic syndrome.

Late Relapse in Neuroblastoma: Case Report and Review of the Literature.

BACKGROUND: Neuroblastoma is the most common extra-cranial solid tumor in children. The survival rate of relapsed/refractory neuroblastoma is dismal. Late recurrence may occur rarely. CASE PRESENTATION: We have, herein, presented a case with stage IV neuroblastoma who relapsed after 11 years and had a subsequent relapse after 15 years from the initial diagnosis, and reviewed cases with late relapsed (after >5 years) neuroblastoma in the literature. The case presented with recurrent disease at the T7 vertebra after 11 years from the initial diagnosis. The patient received surgery, chemotherapy, MIBG treatment, and antiGD2 combined with chemotherapy, and had a further local recurrence in the paravertebral area of the removed T7 vertebra after three years. The patient was operated, received anti-GD2 combined with chemotherapy, and is still alive with no symptoms for 19 months after the last relapse. CONCLUSION: There is not a well-established treatment regimen for the majority of these patients. MIBG treatment and antiGD2 combined with chemotherapy may be promising options for relapsed/ refractory neuroblastoma.