A Veiled Lymphatic Malformation: Stridor in a Child.

Lymphatic malformation (LM) is a congenital lymphatic dysplasia associated with the p110α subunit of PI3K (PIK3CA) mutation. A two-year-old boy presented with a history of noisy breathing from the age of two months, which was progressively worsening. Inspiratory stridor was audible with subcostal recession. Flexible nasopharyngolaryngoscopy (FNPLS) revealed an enlarged right arytenoid. Other supraglottic structures were normal, and bilateral vocal cords were mobile. Direct laryngoscopy showed that the right arytenoid was enlarged with a smooth surface. On the subsequent visit, there was a painless soft lateral neck swelling, 4 cm x 4 cm in size, with normal skin. MRI confirmed LM with the predominantly macro-cystic component, involving primarily the right neck and upper mediastinum, causing airway compression. Sirolimus therapy was initiated, and at one month of follow-up after the treatment, his stridor had improved. The incidence of stridor secondary to head and neck tumors such as teratomas, hemangiomas, and LM accounts for less than 3%. The typical manifestation of LM often involves a painless, soft, and compressible mass that progressively increases in size. Features of macrocystic LM on MRI are multilocular and hyperintense cystic mass on T2-weighted imaging. The treatment methods for LM include surgical and non-surgical options. Despite being an off-label application, the response rate of sirolimus therapy in children with LM is reported to be 91%, and the first clinical response was observed in less than three weeks. Stridor is frequently encountered in children but rarely due to head and neck tumors. However, as in our case, a large LM may cause recurrent airway obstruction, and the neck swelling may appear later. Atypical airway findings, especially endoscopic examination, in a child with stridor should be complemented with imaging to examine the possibility of extra-laryngeal mass or external compression.

A rare case of spontaneous carotid sheath abscess presenting as a painful neck mass.

Infections of the carotid arteries and sheath without any underlying etiology are extremely uncommon. In this article, we report the successful open repair of a right carotid sheath abscess in a 71-year-old woman with multiple comorbidities. The repair consisted of excision of the affected carotid segment and reconstruction by interposition of a reversed great saphenous vein graft. Postoperative Doppler ultrasound examination showed patent right carotid artery, and the patient demonstrated no recurrence postoperatively. This case suggests that, although rare, spontaneous carotid sheath remains a possible cause of neck mass, warranting high suspicion index for optimal treatment in a timely manner to avoid further complications.

Three-Month History of Lymphadenopathy Caused by Bartonella henselae in a 13-Year-Old Following a Dog Scratch.

We reported the case of a 13-year-old immunocompetent boy presenting with a right cervical neck mass. He complained of fatigue, back pain, coughing, and a right neck mass persisting for three months. He did not have a fever, but his parents reported he had lost 20 lbs. in the past six months without any change in diet or appetite. They are also very concerned about the risk of malignancy. During the initial work-up, there was no abnormality in the complete blood count. During the follow-up visit 10 days later, he complained of new-onset dysphagia and throat pain. The mass was about 5 cm on the right neck, poorly mobile, and mildly tender to palpation. It looks significantly different compared to the first visit. Blood serology tests were indicated, and titers of cytomegalovirus (CMV), Epstein-Barr virus (EBV), and toxoplasma were not reactive. However, serology detected that IgM and IgG titers to Bartonella henselae were ≥1:20 and ≥1:1024, respectively. A fine needle aspiration (FNA) of the mass on the same day revealed lymphoid proliferation. Afterward, the patient was treated with amoxicillin-clavulanic acid for two weeks. After three weeks, the mass almost disappeared, and the patient reported a remarkable improvement in symptoms. This case report is a helpful reminder that B. henselae should be suspected on the differential diagnoses in a case of lymphadenopathy associated with non-specific symptoms such as fatigue, back pain, and weight loss.

Well-Differentiated Liposarcoma of the Posterior Neck: A Case Report.

Soft tissue sarcoma is a rare differential diagnosis for masses arising in the head and neck regions and should be evaluated carefully. We report a case of a patient with a large posterior neck mass. Initially, the mass was suspected to be an intermuscular lipoma based on computed tomography (CT) scan and magnetic resonance imaging (MRI) findings, which showed a large, well-defined, lobulated intermuscular fatty mass. The mass was excised through a cervical incision while preserving the surrounding vital muscular and neurovascular structures. Histopathological examination revealed a well-differentiated liposarcoma (WDLS) with adipocytes of various sizes, scattered nuclear atypia, and expanded fibrous septa containing atypical stromal spindle cells positive for MDM2 staining. These findings confirmed the mass as a WDLS. We describe our approach to the diagnosis and treatment of this condition in detail.

Neck paragangliomas: a case report and literature review.

OBJECTIVE: Thyroid-originated paragangliomas are very uncommon, and there is a lack of established guidelines regarding their management. METHODS: A case study was presented, and a review of the literature was conducted. RESULTS: Diagnosing a paraganglioma requires multiple diagnostic methods, including a 24-h measurement of metanephrines or catecholamines, anatomical imaging using magnetic resonance or computed tomography (CT) scans, and functional imaging using metaiodobenzylguanidine or 18F-DOPA PET/CT scans. Additionally, with the presence of somatostatin receptors on paragangliomas, the use of octreotide scans such as a 68Ga DOTATATE PET/CT scan is expected to increase soon. The primary treatment for laryngeal paragangliomas is surgical intervention aimed at achieving optimal tumor removal while retaining the highest possible level of laryngeal function. One should not do elective neck dissection given the low risk of metastasis and recurrence. Although the rate of recurrence and metastasis for paragangliomas is low, continued monitoring through clinic visits, biochemical testing, and imaging is still necessary. Furthermore, follow-up efforts should also consider genetic testing of the critical genes associated with paragangliomas. CONCLUSION: Although there is still debate regarding the existence of thyroid paraganglioma, it can nonetheless be classified as a subtype of laryngeal paragangliomas. All hypervascular thyroid nodules require the consideration of thyroid-associated paragangliomas.

Sequelae of carotid endarterectomy patch infection: An otolaryngologist perspective.

BACKGROUND: Postoperative carotid endarterectomy (CEA) patch infection is a rare but well-recognized complication of CEA. It is important for otolaryngologists to be aware of the presentation and challenges in its diagnosis. METHODS: Patients who presented with a neck mass or hemorrhage and a known prior history of carotid endarterectomy with synthetic patch reconstruction were worked up with ultrasound, CT, or MRI imaging. In one case, fine needle aspiration biopsy was performed. Ultimately, all patients were taken to the operating room for neck exploration. RESULTS: Of the three patients presented in this case series, two presented with a chronic neck mass, two-to-three years after carotid endarterectomy. One patient presented acutely with hemorrhage from the carotid endarterectomy site. Carotid patch infection was diagnosed after neck exploration in all cases. Vascular surgery was consulted intra-operatively to perform definitive vascular repair. CONCLUSIONS: Infected carotid patch should be suspected in patients with a history of prior CEA, as many of the presenting complaints may resemble or mimic pathology managed by otolaryngology. The onset of symptoms can be perioperative or very delayed. A multidisciplinary approach with vascular surgery and infectious disease is required for appropriate management of these patients.

Spindle epithelial tumor with thymus-like elements (SETTLE): a diagnostic challenge with distinct therapeutic implication; case report.

Spindle epithelial tumor with thymus-like elements (SETTLE) is a rare malignant neoplasm of the thyroid gland which is believed to arise from intrathyroidal thymic tissue. It predominantly affects young adults and children presenting with a thyroid mass of variable duration and rarely occurs in adults. It has a high overall survival with a tendency for delayed metastasis. SETTLE is a biphasic lobulated tumor composed of spindle shaped cells along with glandular formations seen on histopathological examination. Despite its typical morphology it is commonly misdiagnosed on histopathology due to its rarity and overlapping morphology with other close mimics such as a carcinoma, synovial sarcoma and thymoma. Herein we report such a case occurring in a middle aged female presenting with a neck mass. She had an initial diagnosis of metastatic poorly differentiated squamous cell carcinoma possibly with an orophayngeal primary in view of co expression of CK, p40 and p16 on immunohistochemistry. The patient underwent surgical resection with modified neck dissection. On review at our hospital it was diagnosed as SETTLE and she remains disease free after a follow-up period of 1 year. Diligent histopathological examination espoused with a judicious panel of IHC markers in conjunction with clinicoradiological findings forms the mainstay of diagnosis. Diffuse and strong p16 immunoexpression has not been documented or evaluated in literature so far, and needs to be explored for its diagnostic utility in this rare entity.

Thyroid involvement in cystic echinococcosis: a systematic review.

BACKGROUND: Thyroid Hydatid Cyst (THC), a pathological state induced by the larval form of Echinococcus granulosus, represents a multifaceted clinical entity with nonspecific symptoms, making both diagnosis and treatment intricate. The current understanding of THC's attributes is somewhat limited. To gain a broader perspective on the disease's clinical and epidemiological characteristics, we have systematically reviewed the existing literature. METHODS: We performed an extensive review of articles on THC across four key scientific databases: PubMed, Scopus, Web of Science, and Google Scholar. Our study encompassed all patients diagnosed with THC through post-surgical pathology or Fine Needle Aspiration Cytology (FNAC) examinations, extracting clinical, epidemiological, and therapeutic data of THC patients from publications up to October 2023. RESULTS: From 770 articles, 57 met our criteria, detailing 75 THC patients. The gender ratio was 2.36 females per one male. The patients averaged 36.1 years old, with common symptoms including neck mass, hoarseness, shortness of breath, and dysphagia. The left lobe was involved in most patients, and only 21.3% had extrathyroidal involvement. Cysts averaged 36.4 mm in diameter, with cystic nodules being the most frequent imaging finding (91.2%). Serological tests were performed for 42.6% of cases, of which 62.5% were positive. Surgery was undertaken in 71 patients (94.6%). CONCLUSION: Cystic echinococcosis (CE) of the thyroid should be considered as part of the differential diagnosis in patients with cervicofacial mass, especially in endemic countries. The present study provides reliable data to improve our understanding of the features of the disease for a better diagnosis and management.

Uncommon Site Presentation: A Case Report of Extraparotid Warthin's Tumor.

Warthin's tumor, also known as adenolymphoma or papillary cystadenoma lymphomatosum, is a benign tumor almost exclusively found in the parotid gland and is the second most common type of benign parotid tumor. Its manifestation as an extraparotid lesion is rare, with a low incidence in the submandibular gland. In this context, we present a case of Warthin's tumor of the submandibular gland in a 66-year-old man who presented with a painless lateral cystic cervical mass. This case highlights the clinical and radiological evidence of an uncommon extraparotid tumor location, with the diagnosis becoming evident only after the enucleation of the mass. Despite the rarity of extraparotid Warthin's tumor and its potential variation in location, the authors recommend considering Warthin's tumor of the submandibular gland in the differential when assessing lateral cervical masses.

Efficiency of Fine-Needle Aspiration (FNA) in Relation to Tru-Cut Biopsy of Lateral Neck Swellings.

Background Lateral neck masses have always been difficult to diagnose without proposing a differential diagnosis. Fine-needle aspiration (FNA) was proposed to be a cost-effective method and less invasive than a tru-cut biopsy and may provide a provisional diagnosis in relation to cytopathology. FNA has also been shown to improve the diagnosis of neck masses such as cervical lymphadenopathy, neck cysts, and parotid masses, whether malignant or benign. This study aims to evaluate the accuracy of FNA cytopathology versus a tru-cut biopsy histopathological examination. Materials and methods This study was conducted retrospectively in King Hussein Medical Hospital, Royal Medical Services, Hashemite Kingdom of Jordan, from January 2019 to January 2024. Ethical approval was taken to conduct this study with reference number 06/2024. All patients included in this study have given verbal and written consent to perform FNA and surgical tru-cut biopsy. The inclusion of patients was based on any person above the age of 16 who underwent an FNA followed by a surgical biopsy to correlate with the primary diagnosis. Exclusion criteria involved any patient who missed one of the above criteria. Statistical analysis was performed using IBM SPSS v29 (IBM Corp., Armonk, NY, US) with significant results considered with a p-value <0.05. Results A total of 107 patients were included in this study. A correlation between FNA results and final histopathological biopsy was done with an accuracy of 90.6%, specificity of 94.3, predictive positive value of 73.6%, and negative predictive value of 94.3%. There was a statistical significance between FNA and tru-cut biopsy with a p-value of <0.001. Conclusion FNA is a great tool to consider when diagnosing lateral neck swellings. Since it was statistically significant, FNA should be considered for any lateral neck swelling before any surgical tru-cut biopsy for a definitive diagnosis.

An overview of the contemporary diagnosis and management approaches for anaplastic thyroid carcinoma.

Thyroid carcinoma is a complex disease with several types, the most common being well-differentiated and undifferentiated. The latter, "undifferentiated carcinoma", also known as anaplastic thyroid carcinoma (ATC), is a highly aggressive malignant tumor accounting for less than 0.2% of all thyroid carcinomas and carries a poor prognosis with a median survival of 5 months. BRAF gene mutations are the most common molecular factor associated with this type of thyroid carcinoma. Recent advances in targeted biological agents, immunotherapy, stem cell therapy, nanotechnology, the dabrafenib/trametinib combination therapy, immune checkpoint inhibitors (ICI) and artificial intelligence offer novel treatment options. The combination therapy of dabrafenib and trametinib is the current standard treatment for patients with BRAF-V600E gene mutations. Besides, the dabrafenib/trametinib combination therapy, ICI, used alone or in combination with targeted therapies have raised some hopes for improving the prognosis of this deadly disease. Younger age, earlier tumor stage and radiotherapy are all prognostic factors for improved outcomes. Ultimately, therapeutic regimens should be tailored to the individual patient based on surveillance and epidemiological data, and a multidisciplinary approach is essential.

Papillary Thyroid Carcinoma Concealed Within a Branchial Cyst Without Primary Thyroid Involvement: Unveiling the Enigma.

Branchial cleft cysts are congenital anomalies that form during fetal development and originate from the second branchial cleft. They typically manifest as painless masses on the side of the neck and can become symptomatic when infected. These cysts can create a cavity that may foster infection and, in rare instances, facilitate the spread of primary tumors. It is unusual to find ectopic thyroid tissue within a brachial cyst and it is even rarer to see papillary thyroid carcinoma developing from this tissue. Whenever physicians find a case of lateral neck cyst containing thyroid neoplasm without a known primary in the thyroid, there is always a confusion about whether it is a case of metastatic disease with an undetected primary tumor, or is a carcinoma originating from ectopic thyroid tissue. This is a case report of a papillary thyroid cancer that was unintentionally discovered inside a branchial cyst. So far, only five cases akin to this have been documented. There was no sign of an underlying primary thyroid tumor after the patient had a complete thyroidectomy and selected neck dissection, according to a comprehensive evaluation. This article touches on the development of thyroid tissue within branchial cysts and discusses the etiology of lateral neck tumors. The outcome for such patients appears to be favorable after cyst excision and total thyroidectomy. This article also emphasizes the importance of doing routine histopathological examinations on surgically removed samples that look benign.

Sign of Neck Mass as the Chief Complaint: A Case Report and Literature Review About Thyroid Metastasis of Colorectal Cancer.

Background: Commonly, the thyroid gland is regarded as an organ with fewer metastatic diseases, and colorectal metastasis to the thyroid (CMT) is rarely reported, especially, with that the clinical sign of thyroid metastasis nidus is the chief complaint. The CMT occurs in advanced colorectal cancer and is associated with poor prognosis and short survival. Case Report: In this case, we reported a patient with the sign of neck mass as the first manifestation of CMT. The patient underwent a partial thyroidectomy in June 2019, immunohistochemical findings of thyroid carcinoma suggested the possibility of adenocarcinoma of gastrointestinal tract. The patient underwent a colonoscopy in July 2019 and a colonic mass was found. Pathological examination diagnosed rectal adenocarcinoma. The patient underwent neoadjuvant chemotherapy, surgical treatment, postoperative adjuvant chemotherapy and targeted therapy. The patient died in June 2022. Conclusion: The metastasis disease would not be ignored at all, when a patient complains at signs of neck mass. Further, the possibility of metastasis cancer should be considered once thyroid nodules occur in patients with colorectal cancer. Even though the biological characteristics and stage of the primary tumor have an important impact on the prognosis, positive standardized treatments can also be helpful.

Neck schwannoma with phrenic nerve involvement: A rare case report.

INTRODUCTION AND IMPORTANCE: Phrenic nerve schwannoma is an occasional axonal tumor that is mostly asymptomatic. CASE PRESENTATION: In this report, a man with a painless lump in his neck was the subject. His diagnostic process included the recording of schwannoma. Phrenic schwannoma was removed by surgery without any complication during follow-up. CLINICAL DISCUSSION: Surgical excision under general anesthesia was done for the patient and during the surgical explore, the surgeon observed that, the schwannoma arose from the cervical phrenic nerve. The cervical mass was dissected from the phrenic nerve precisely by intracapsular enucleation technique. CONCLUSION: The phrenic involvements of schwannomas are extremely rare and mostly presented as a painless mass. Additionally, complete surgical excision of them is an efficient method.

Whispers in the Neck: Unmasking Cystic Metastases From Hidden Papillary Thyroid Carcinoma.

Papillary thyroid carcinoma is the most common thyroid malignancy and it frequently causes lymph node metastases. Approximately 50% of patients with papillary thyroid carcinoma have cervical lymph node metastases at the time of their initial presentation. Here we report a case of a young female who presented with a benign-appearing cystic neck mass, which was revealed to be metastases from occult papillary thyroid carcinoma. Completion thyroidectomy and neck dissection were done after the diagnosis of papillary thyroid carcinoma.

Giant Thyroid Gland Abscess Causing Upper Airway Obstruction: A Case Report.

Background: Thyroid gland abscess is a rare pathology with life-threatening complications when there is a delay in diagnosis. However, physicians should be aware of and consider this differential in patients with anterior neck swelling having acute onset compressive symptoms to ensure early diagnosis and management. Case Presentation: A 62-year-old female patient presenting with worsening of painful anterior neck swelling with associated fever, shortness of breath, and difficulty swallowing. The patient was found to have a thyroid abscess causing upper airway obstruction, against a background of follicular nodular disease found on clinical examination, cytology and fluid analysis from aspirate, biopsy, ultrasonography, and computed tomography. The patient was managed with endotracheal intubation and was subsequently discharged after recovery with antibiotic therapy, incision and drainage, and thyroid lobectomy. Conclusion: Thyroid abscess is an uncommon, critical clinical condition with high morbidity and mortality. Thyroid gland abscess should be considered while evaluating patients presenting with acute onset anterior neck swelling. Satisfactory clinical outcomes could be achieved with early diagnosis and proper management.

Lemierre's syndrome: A rare complication of acute bacterial pharyngitis.

Lemierre's syndrome is a rare clinical syndrome of septic thrombophlebitis following a bacterial oropharyngeal infection. Lemierre's syndrome can be difficult to recognise and has significant morbidity. We report the case of a young man with Lemierre's syndrome caused by Streptococcus pyogenes, who responded well to 2 weeks of beta-lactam therapy. Contributions: This case report summarises the key presenting features of Lemierre's syndrome and provides a brief literature review considering the South African context.

Incidental finding of thyroglossal duct cyst in a neonate during endotracheal intubation: a case report.

BACKGROUND: Thyroglossal Duct Cyst (TDC) is a common lesion of the midline neck, originating from an incomplete involution of the thyroglossal duct. It is typically observed in pre-scholar patients and surgery is the treatment of choice to prevent infections. Here reported a case of incidental diagnosis in a newborn patient. CASE PRESENTATION: a 3-week-old male baby was admitted to our hospital for weight loss and projectile vomits after breastfeeding. After a diagnosis of hypertrophic pyloric stenosis, the baby underwent pyloromyotomy. During the endotracheal tube placement, the anesthetist noticed the presence of a midline neck mass. The suspect of TDC was confirmed by an intraoperative ultrasound, so, despite the age of the patient, we proceeded with the excision of the lesion according to Sistrunk's procedure to avoid future complications and anesthesia. CONCLUSIONS: even if TDC is a common lesion of pediatric patients, anecdotical neonatal cases were described in the literature, all of them symptomatic. An accurate physical examination and ultrasound are essential diagnostic tools to distinguish TDC from other middle neck lesions, particularly ectopic thyroidal tissue. Sistrunk's procedure is the most effective surgical approach. When diagnosis is made in a newborn, we suggest postponing surgery, unless the baby requires general anesthesia for other surgical procedures, such as in our case.

FNA of Meningioma with Rhabdoid Features Presenting as a Lateral Neck Mass.

Primary meningioma at extracranial head and neck sites is uncommon. Since fine needle aspiration (FNA) is often the first line diagnostic modality for the evaluation of masses in the head and neck, extracranial meningiomas can create a significant diagnostic pitfall for FNA. We report a case of meningioma with rhabdoid features and BAP1 loss in a 26-year-old woman, presenting as a large neck mass along the carotid sheath. FNA biopsy of the mass demonstrated a highly cellular specimen with clusters of uniform, epithelioid cells with round to ovoid nuclei and moderate nuclear to cytoplasmic ratio. An extensive immunohistochemical panel performed on cell block sections showed that the tumor cells were weakly EMA positive, progesterone receptor was focally positive, and SSTR2A was diffuse and strongly positive. BAP1 immunohistochemistry showed a diffuse loss of expression in the tumor cells. After the cytologic diagnosis of meningioma, a tissue biopsy was performed, and the diagnosis of meningioma with rhabdoid features and BAP1 loss was confirmed. We also perform a literature review of meningioma cases presenting as a neck mass and evaluated by FNA. Our case highlights the significant diagnostic challenges that can be caused by extracranial meningiomas on FNA and the importance of ancillary studies to avoid diagnostic pitfalls.