AME Case Reports最新文献

Background: Tracheobronchial mucoepidermoid carcinoma (MEC) is a salivary-gland type of lung cancer that originates from the submucosal glands of the tracheobronchial tree. MECs are rare, constituting 0.1% to 1.0% of lung carcinomas. Recent advancements in minimally invasive techniques allow for complete robotic resection of tracheal MECs.

Case description: Two cases are described in which patients underwent complete robotic thoracoscopic resection for the treatment of a tracheal MEC. Both patients, aged 14 and 28 years, with no significant medical history, presented with symptoms of hemoptysis and dyspnea on exertion. For both patients, spirometry revealed a flow volume loop indicative of intrathoracic central airway obstruction, computed tomography (CT) scans showed a midtracheal tumor and rigid bronchoscopy was performed for tumor debulking, confirming the pathological diagnosis of low-grade MEC. Multidisciplinary discussion led to the decision to proceed with primary surgical resection. In both cases, a circumferential tracheal resection with intrathoracic end-to-end anastomosis under veno-venous extracorporeal membrane oxygenation (VV-ECMO) was performed via a fully robotic approach. There were no intraoperative complications. One patient required re-intervention via open approach due to positive resection margins on paraffin-embedded sections despite a negative frozen section peroperatively. Both patients had an uncomplicated recovery with discharge on postoperative days 7 and 4, respectively. The 30-day follow-up showed normal flexible bronchoscopy. The patients had no evidence of recurrence at 5-year (patient 1) and 1-year (patient 2) follow-up.

Conclusions: A fully robotic thoracoscopic approach for midtracheal tumor resection under VV-ECMO is feasible, pending negative margins. Peroperative flexible bronchoscopy is essential to mark the lesion after endotracheal debulking. Multidisciplinary discussion is essential in the decision-making process for the treatment of MEC.

Background: Multifocal acquired demyelinating sensory and motor neuropathy (MADSAM) is a rare autoimmune-mediated inflammatory response with negative antibodies which causes demyelination of multiple peripheral nerves in an asymmetric distribution with both motor and sensory deficits. Diagnosis for MADSAM can be clinically challenging, relies on a combination of clinical and electrodiagnostic studies, and symptoms can overlap with other neurological conditions such as systemic lupus erythematosus (SLE). MADSAM is typically asymmetric, demyelinating, and limited to peripheral nerves, whereas SLE is systemic, more commonly axonal, and has vasculitic features. SLE is treated with steroids and immunosuppressants while MADSAM is treated with intravenous immunoglobulin (IVIG), steroids, or plasmapheresis. There is a good short-term prognosis for MADSAM with early treatment, but prognosis can worsen with delayed or inappropriate therapy.

Case description: We describe a case of a woman in her 50s who presented with progressive generalized weakness, weight loss, muscle atrophy, and numbness. She was initially diagnosed with SLE, but deteriorated despite treatment. A broad differential was considered which included SLE, paraneoplastic syndrome, chronic inflammatory demyelinating polyneuropathy (CIDP), amyotrophic lateral sclerosis (ALS), multiple sclerosis (MS), and Guillain-Barré syndrome. Serological studies, neuroimaging studies, nerve conduction studies, and electromyography (EMG) were performed. She was ultimately diagnosed with Lewis-Sumner syndrome, or MADSAM, a variant of CIDP.

Conclusions: The case highlights the importance of understanding the various causes of weakness and neuropathy, particularly with an atypical presentation, to pursue the correct diagnostic tests and treatment. The case particularly focuses on the difference between MADSAM and SLE. There is significant clinical overlap between the two, and a misdiagnosis can delay effective treatment and worsen outcomes by allowing progression to more debilitating stages of the illness.

Background: Thymoma is a rare malignancy accounting for less than 2% of annual cancer diagnoses. While commonly associated with myasthenia gravis (MG), its association with Lambert-Eaton myasthenic syndrome (LEMS), a paraneoplastic syndrome typically linked to small cell lung cancer, is rare. Even rarer are cases with overlapping features of both syndromes.

Case description: We report a 36-year-old postpartum Asian woman with overlapping clinical features of LEMS and MG attributed to her stage IVa thymoma, and minimally responsive to chemotherapy, thus requiring aggressive surgical debulking with cardiopulmonary bypass (CPB). She presented 2.5 weeks postpartum with dyspnea and right pleuritic chest pain. Computed tomography (CT) imaging demonstrated a >20 cm heterogeneous right pleural mass, and a separate 10 cm anterior mediastinal mass invading the superior vena cava (SVC) and innominate vein. Biopsy confirmed thymoma type B2. Further positron emission tomography (PET)/CT imaging showed no distant metastasis. The Multidisciplinary Tumor Board recommended neoadjuvant chemotherapy due to vascular invasion, followed by surgical resection. A month later, she developed worsening dyspnea, diplopia, dysphagia, and generalized extremity weakness with serologic testing positive for acetylcholine receptor (AChR) blocking antibodies. She was diagnosed with a paraneoplastic neuromuscular syndrome attributed to her stage IVa malignant thymoma. She was started on pyridostigmine, an acetylcholinesterase inhibitor, improving her symptoms. Restaging CT showed minimal response to chemotherapy, necessitating palliative debulking surgery, including right extrapleural pneumonectomy, thymectomy, SVC repair, and pericardial and diaphragm reconstruction. Pathology confirmed diffuse thymoma type B2 with R1 resection. She recovered uneventfully and underwent adjuvant radiation therapy, and remains disease-free on interval surveillance imaging.

Conclusions: This rare case of stage IVa thymoma in a postpartum Asian woman with overlapping features of LEMS and MG highlights the role of acetylcholinesterase inhibitors for symptom management, and the role of aggressive radical debulking surgery with CPB, in a young, otherwise healthy patient.

Background: May-Thurner syndrome (MTS) is a rare cause of left lower extremity venous disorders, including deep vein thrombosis (DVT). Classic MTS is caused by compression of the left common iliac vein (LCIV) by the right common iliac artery (RCIA). We report a case of a left lower extremity DVT caused by a rare variant of the classic MTS wherein the LCIV is compressed by the left common iliac artery (LCIA) instead of the RCIA.

Case description: A 77-year-old female presented with left lower extremity swelling for two days. Computed tomography (CT) venogram demonstrated extensive ileo-femoral DVT from the LCIV to the peroneal vein, raising suspicion of MTS. She was found to have an unusual variant of MTS wherein the LCIV was compressed by the LCIA instead of the RCIA. She was started on full-dose anticoagulation with heparin and subsequently underwent mechanical thrombectomy followed by endoluminal stenting of the LCIV and external iliac vein (EIV) with restoration of venous flow post-stenting as confirmed by venogram. The patient was discharged home with oral anticoagulation to be continued for 6 months and instructions for follow-up duplex ultrasound to ensure stent patency.

Conclusions: MTS should be considered as an underlying etiology of left lower extremity DVT, especially in females and the atypical variants of MTS should be considered while formulating a management plan.

Background: Colo-ovarian fistulas are exceptionally rare complications of diverticulitis, with very few cases documented. Their nonspecific presentation often mimics gynecologic pathology, frequently leading to misdiagnosis and delayed treatment. Currently, there are no standardized guidelines for diagnosis or management of colo-ovarian fistulas. This unique case describes a patient who initially presented with findings suggestive of a tubo-ovarian abscess (TOA), but contrast-enhanced computed tomography (CT) with oral and rectal contrast revealed a colo-ovarian fistula, illustrating a potential diagnostic pathway for this rare condition.

Case description: A 36-year-old woman with no significant medical history presented with left lower quadrant abdominal pain. Initial evaluation at an outside facility suggested a TOA and empiric antibiotics were initiated. Upon transfer, contrast-enhanced CT with oral and rectal contrast revealed a 6.8 cm left adnexal fluid collection containing air, with a fistulous tract connecting the sigmoid colon to the left ovary. Percutaneous drainage was deemed unsafe due to the posterior location of the lesion and surrounding bowel. She underwent robotic-assisted sigmoid colectomy with primary anastomosis and left salpingo-oophorectomy. Intraoperative findings confirmed dense adhesions and purulent material within the ovary. Pathology revealed diverticulitis with colonic perforation and an ovarian abscess containing digested food, confirming colo-ovarian fistula. Postoperatively, she recovered uneventfully, was discharged on postoperative day three, and remained asymptomatic at follow-up, with plans for interval colonoscopy.

Conclusions: Colo-ovarian fistulas are rare, diagnostically challenging, and often misidentified as gynecologic pathology. Early recognition with contrast-enhanced CT-including selective use of rectal contrast-may improve diagnostic accuracy and facilitate timely management. Definitive treatment generally requires surgical resection, and multidisciplinary coordination is critical to optimizing outcomes. This case adds to the limited literature by emphasizing both the diagnostic value of rectal contrast and the importance of timely surgical intervention, providing clinicians with an example of a systematic approach to complex pelvic infections.

Background: Acute dystonia is a well-recognised extrapyramidal side effect of antipsychotic medications, often presenting within hours to days of administration. While orofacial involvement is common, bilateral temporomandibular joint (TMJ) dislocation as a direct consequence of drug-induced dystonia is exceedingly rare and may be misinterpreted as a primary psychiatric or dental issue.

Case description: A 39-year-old man with schizophrenia had been stable on regular intramuscular flupentixol decanoate (40 mg every four weeks). When his mental health deteriorated, the depot dose was increased. Three weeks later, his sister contacted the general practitioner (GP) about new slurred speech, drooling, and inability to close his mouth. During a home visit, the GP noted facial spasm, trismus, and an open-locked jaw, suggesting bilateral temporomandibular joint (TMJ) dislocation, and arranged urgent referral to the emergency department (ED). In the ED, the patient was distressed and unable to speak or close his mouth. Examination and radiography confirmed bilateral anterior TMJ dislocation. Intravenous diazepam provided little relief, and manual reduction under conscious sedation failed due to severe dystonia. Both joints were successfully reduced under general anaesthesia using the standard two-thumb technique. Symptoms resolved completely, and no recurrence was observed on follow-up. A diagnosis of acute drug-induced dystonia leading to bilateral TMJ dislocation was established, and his antipsychotic regimen was reviewed with the psychiatric team.

Conclusions: This case highlights an uncommon mechanical complication of antipsychotic-induced dystonia. Timely recognition and management are essential to avoid airway risk, prolonged joint dysfunction, or misattribution to psychiatric pathology. It reinforces the need for multidisciplinary coordination between emergency medicine, psychiatry, and maxillofacial services.

Background: The adrenal gland is one of the important endocrine organs in the human body. With advancements in medical technology, the diagnosis rates of adrenal diseases, such as adrenal tumors and adrenal cortical hyperplasia, have been steadily increasing. Surgical intervention is the mainstream method for treating adrenal tumors; however, unilateral complete adrenalectomy may impair the patient's adrenal cortical function, leading to adrenal insufficiency (AI). AI is caused by a deficiency of glucocorticoids, which may be accompanied or not accompanied by reductions in mineralocorticoids and sex hormones. The clinical manifestations can be prolonged and nonspecific, sometimes resulting in misdiagnosis and mistreatment. Adrenal venous sampling (AVS) is typically one of the diagnostic methods used to determine the presence of a functioning adrenal adenoma. After unilateral adrenalectomy for a functioning adrenal adenoma, AI may occur. Here, we summarize a case of a patient with a functioning adrenal adenoma who developed AI following unilateral adrenalectomy.

Case description: Here, we report a case of AI following unilateral adrenalectomy. The patient is a 28-year-old woman with a 2-year history of hypertension and a right adrenal mass that had been detected for more than 3 months. An abdominal computed tomography (CT) scan suggested a mass in the right adrenal gland. Preoperative AVS indicated elevated levels of aldosterone and cortisol in the right adrenal vein. After thorough preoperative preparations, a laparoscopic right adrenalectomy was performed, and postoperative pathology confirmed an adrenal adenoma. After discharge, the patient experienced recurrent symptoms of nausea and vomiting. Upon returning to the hospital, blood tests revealed abnormally low levels of cortisol in the peripheral blood, suggesting AI. After receiving glucocorticoid treatment, her symptoms improved.

Conclusions: Primary AI is relatively rare in clinical practice, typically occurring after unilateral adrenal surgery. The clinical manifestations are nonspecific, which often leads to misdiagnosis and mistreatment. Preoperative AVS for hormone level assessment can assist in diagnosing the nature of a functioning adrenal adenoma and help prevent postoperative AI.

Background: Unilateral absence of the pulmonary artery (UAPA) is a rare congenital anomaly resulting from the failure of the sixth aortic arch to fuse with the pulmonary trunk during embryonic development. In the absence of any congenital cardiac anomalies, it is referred to as isolated UAPA. It is more often right-sided and may be asymptomatic until adult age. The literature regarding isolated UAPA in adults is limited. This paper aims to enhance understanding of UAPA in this age group and improve its management objectives.

Case description: We present a rare case involving a 37-year-old man with hemoptysis and slight stuffiness. Computed tomography angiography (CTA) revealed the absence of the right pulmonary artery, along with marked dilation of the bronchial, intercostal, inferior phrenic, internal mammary, and lateral thoracic arteries. These arteries were considered as collateral circulation to the right lung. As this was his initial instance of hemoptysis, he chose conservative treatment and was discharged after the symptoms improved. During the follow-up period, the patient has had no further episodes of hemoptysis or other related symptoms.

Conclusions: Clinicians should consider isolated UAPA in adult patients with unexplained hemoptysis. CTA can confirm the diagnosis and discern the anatomic details, collateral arteries will also be depicted.

Background: Parathyroid adenoma accounts for the majority of primary hyperparathyroidism (PHPT) cases. However, ectopic presentations-particularly those arising outside the typical cervical anatomical landmarks-remain rare and diagnostically challenging. These lesions often mimic skeletal pathologies, thereby increasing the risk of misdiagnosis.

Case description: We report the case of a 60-year-old male tile-layer who was admitted with a 10-month history of progressive left-sided rib pain. The medical history of the patient was notable for multiple fractures and chronic low back pain. On physical examination, localized swelling was observed over the left ninth rib. Biochemistry serum tests revealed hypercalcemia (serum calcium: 3.07 mmol/L), hypophosphatemia (serum phosphate: 0.62 mmol/L), and elevated alkaline phosphatase. Computed tomography demonstrated expansile lytic lesions involving multiple ribs and scapulae, initially suggestive of a primary bone tumor. The patient underwent resection of the left ninth rib lesion, and histopathology evaluation revealed a brown tumor. Subsequent endocrine function and organs evaluation identified markedly elevated parathyroid hormone (PTH) levels (peak: 1,912.1 pg/mL). Cervical medical imaging procedures and intraoperative exploration localized an ectopic mass situated medial to the left sternocleidomastoid muscle. The lesion was completely excised, and histopathology confirmed an ectopic parathyroid adenoma with focal hyperplasia. Postoperatively, the patient showed a rapid decrease in PTH levels, followed by transient hypocalcemia and secondary reactive hyperparathyroidism.

Conclusions: This case highlights a rare instance of an intrasterneomastoid ectopic parathyroid adenoma misdiagnosed as a skeletal neoplasm. The unusual anatomical location contributed to diagnostic delay and initial mismanagement. Timely surgical excision led to normalization of biochemical markers. Our findings underscore the importance of considering endocrine disorders-particularly ectopic parathyroid pathology-in patients presenting with unexplained multiple osteolytic lesions, to avoid misdiagnosis and ensure appropriate treatment.

Background: Cholecystoenteric fistula (CEF) is a rare complication of biliary disease, characterized by an abnormal connection between the gallbladder and the gastrointestinal tract. It typically arises in the setting of chronic cholelithiasis or inflammation, resulting in the erosion of the gallbladder wall into adjacent gastrointestinal organs. Although imaging modalities like computed tomography (CT), magnetic resonance imaging (MRI), and endoscopic retrograde cholangiopancreatography (ERCP) have advanced, preoperative diagnosis remains difficult. Post-cholecystectomy CEF is exceptionally rare, with very few cases reported in literature, making its diagnosis and management a significant challenge.

Case description: A 51-year-old male with a history of open cholecystectomy in 2007 presented with intermittent abdominal colic and altered bowel habits. He denied fever, weight loss, or gastrointestinal bleeding. Laboratory workup was unremarkable, and tumor markers were within normal range. Colonoscopy revealed no abnormalities. However, contrast-enhanced CT revealed pneumobilia and a fistulous tract between the gallbladder remnant and transverse colon. These findings raised suspicion for a biliary-enteric fistula. The patient subsequently underwent exploratory laparotomy. Intraoperatively, a cholecystocolonic fistula was identified. A completion cholecystectomy with segmental colectomy was performed. Histopathology confirmed chronic inflammation without malignancy. The patient had an uneventful postoperative recovery and was discharged in stable condition.

Conclusions: This case underscores the importance of considering post-cholecystectomy CEF in patients with altered bowel habits and a prior history of biliary surgery. Although rare, this diagnosis should be suspected in patients presenting with pneumobilia and gastrointestinal symptoms without recent instrumentation. CT imaging remains the cornerstone for preoperative detection. Surgical intervention remains the mainstay of treatment, and complete excision of the fistula tract is essential for both symptom resolution and histopathological assessment. This case underscores the importance of considering post-cholecystectomy CEF in patients with altered bowel habits and a history of biliary surgery. High clinical suspicion and advanced imaging are essential for diagnosis. Surgery remains the definitive treatment.