AME Case Reports最新文献

Background: Congenital anomalies of the kidneys and urinary tract (CAKUT) comprise a large spectrum of congenital malformations, and combined manifestations of CAKUT spectrum could coexist in the same person, which make the management more challenging. We present a rare clinical case of left incomplete duplex kidney with calculus and homolateral ureterovesical junction obstruction (UVJO) that occurred in a female adult, and report the combined surgical management of lithotripsy by flexible ureteroscopy with holmium laser, and refitting the ureter into the bladder after resection of the affected segment.

Case description: A 34-year-old female presented to our outpatient with the chief complaints of intermittent left flank pain for a week. The patient was diagnosed of renal calculus and hydronephrosis on the left side by abdominal color Doppler ultrasound, and intravenous pyelogram (IVP) revealed left incomplete duplex kidney, and UVJO, meanwhile, computerized tomography (CT) scan revealed the calculus located in the lower moiety of the incomplete duplex kidney, and the diameter of it was about 1.8 cm. The patient was diagnosed of left incomplete duplex kidney with calculus, hydroureteronephrosis and UVJO homolaterally. The flexible ureteroscopy with holmium laser was applied to remove the calculus, following a double-J ureteral stent insertion. The ureterovesical reimplantation was performed synchronously. The postoperative recovery and follow-up were uneventful.

Conclusions: This report documents a rare case of multiple renal anomalies that included left incomplete duplex kidney with calculus, hydronephrosis, and homolateral UVJO. Flexible ureteroscopy with holmium laser is a safe and feasible option to manage the calculus in the incomplete duplex kidney, and homolateral UVJO can be effectively treated by vesicoureteral reimplantation in one operation.

Background: Atypical parathyroid tumours (APTs) are a recently classified parathyroid neoplasm with uncertain malignant potential that necessitates cautious management and surveillance. Little data exists regarding clinical and biochemical manifestations of APTs and their delineation from other parathyroid neoplasms, especially parathyroid carcinomas. This case report provides further data in the form of clinical features and perioperative parathyroid hormone trends to increase the understanding of factors that can inform the differential diagnosis of parathyroid neoplasms. This case also highlights the role of multidisciplinary management of APTs and ongoing surveillance in the context of ongoing primary hyperparathyroidism (PHPT) post-resection.

Case description: Our case describes a 66-year-old Caucasian male with an exacerbation of chronic obstructive pulmonary disease due to infection, and an incidental finding of severe hypercalcaemia and PHPT. This prompted further investigations that identified a parathyroid neoplasm with clinical and biochemical features most concerning for parathyroid carcinoma, however, it was found to be an APT. A multidisciplinary approach was utilised during pre- and post-operative management to normalise serum calcium levels, surgically resect the APT, and for ongoing surveillance that subsequently identified a parathyroid adenoma.

Conclusions: APTs and parathyroid carcinomas are challenging entities to delineate in the assessment and management of PHPT. A multidisciplinary approach is crucial to manage severe hypercalcaemia secondary to APTs, as is ongoing surveillance postoperatively, given the potential for multiglandular causes of PHPT. Biochemical differences between APTs and parathyroid carcinomas require further research, although perioperative PTH trends may be useful in differentiating APTs and parathyroid carcinomas prior to resection, and immunohistochemical markers may aid histological differentiation.

Background: Splenic metastasis from nasopharyngeal carcinoma (NPC) is exceptionally rare, accounting for only about 1% of all splenic metastases from solid tumors. Fewer than 30 cases have been documented worldwide. NPC is a common head and neck malignancy in certain regions, with a tendency to metastasize to regional lymph nodes in approximately 70% of cases, while distant metastases occur in about 30%. The spleen is an unusual site for secondary involvement, possibly due to its anatomical and immunological characteristics.

Case description: We report a 40-year-old male with a significant smoking history who initially presented with cervical lymphadenopathy and was diagnosed with Epstein-Barr virus-associated, poorly differentiated non-keratinizing NPC (T3N2M0). He received concurrent chemoradiotherapy, followed by several lines of systemic therapy and targeted radiotherapy for progressive bone and abdominal lymph node metastases. During follow-up, he developed intermittent left-sided abdominal discomfort. Positron emission tomography/computed tomography (PET/CT) and abdominal magnetic resonance imaging (MRI) demonstrated a new splenic lesion. Multidisciplinary tumor board review recommended laparoscopic splenectomy with distal pancreatectomy for both diagnostic and therapeutic purposes. The postoperative course was uneventful, and histopathology confirmed metastatic NPC. Despite surgery, subsequent surveillance revealed gastric metastasis, and the patient was placed on palliative systemic treatment.

Conclusions: Although rare, splenic metastasis should be considered in NPC patients presenting with new abdominal symptoms or suspicious imaging findings during surveillance. Early detection through advanced imaging modalities such as PET/CT, MRI, and ultrasonography can facilitate timely intervention. Splenectomy remains a reasonable option in selected cases, offering diagnostic certainty, symptom relief, and prevention of potential complications such as splenic rupture or local invasion.

Background: Severe extracranial carotid artery stenosis caused by heavily calcified coral reef plaque presents major limitations for endovascular therapy. The thickness and length of the calcification can increase the risk of technical failure, stent recoil, and restenosis. Intravascular lithotripsy (IVL) has been utilized to fragment calcium deposits in the intimal and medial layers of the vessel wall before stenting in the coronary and infra-inguinal arteries, resulting in a more pliable plaque and durable intraluminal gain. Our study is unique as it includes both internal and common carotid artery lesions, incorporates various clinical scenarios-including prior surgical interventions and complex ostial disease-and demonstrates technical success and short-term patency across all patients. It adds valuable data to the emerging body of evidence supporting IVL's off-label use in this context and highlights the need for prospective studies to further assess long-term outcomes.

Case description: In this report, we describe four patients treated with adjunct IVL of the internal or common carotid arteries before trans-carotid artery revascularization (TCAR). All four patients recovered without complications and showed excellent stent expansion and luminal gain.

Conclusions: IVL could be a valuable adjunct in the treatment of severely calcified carotid artery stenosis, potentially reducing the risk of technical failure, stent recoil, and restenosis. Additional research is needed to assess the long-term safety and efficacy of IVL in the treatment of severely calcified carotid artery stenosis.

Background: Pneumatosis intestinalis (PI) is characterized by the presence of gas within the intestinal wall and is most commonly associated with necrotizing enterocolitis (NEC) in preterm neonates. However, PI can also be observed in term infants and older children, where its etiology is more diverse and requires careful consideration of a broad differential diagnosis. Food protein-induced enterocolitis syndrome (FPIES), usually triggered by cow's milk protein (CMP), is a non-IgE-mediated gastrointestinal food allergy. It typically manifests in early infancy with recurrent vomiting, diarrhea, poor weight gain, or failure to thrive, but severe complications such as PI are rare.

Case description: We report the case of a full-term female neonate who presented at 2 weeks of age with a 5-day history of persistent vomiting and bloody stools. On admission, she appeared clinically unwell, with metabolic acidosis and elevated lactate levels. Abdominal examination revealed distension, and imaging demonstrated diffuse PI without evidence of perforation. The patient was admitted to the pediatric intensive care unit, where she was managed conservatively with bowel rest, total parenteral nutrition, and empiric antibiotics. Extensive microbiological and viral investigations were negative. Over 2 weeks, her clinical status improved, and follow-up imaging confirmed the resolution of PI. An amino acid-based formula was introduced, which was well tolerated without recurrence of symptoms. She was subsequently discharged in good condition and has remained well on follow-up, with normal growth and development.

Conclusions: Although PI is mainly present in preterm infants as a sign of NEC, it can be present in infants beyond the neonatal period. The differential diagnosis of PI is wide and depends on the age of presentation. FPIES secondary to CMP is a more common disease, and can present with severe manifestations, and should be suspected when other diagnoses are ruled out.

Background: Antiphospholipid syndrome (APS) is an immune-mediated thrombo-inflammatory disease that causes arterial and venous thromboembolic events. The European Society of Cardiology (ESC) recommends treating APS with warfarin, covering with low molecular weight heparin until the international normalized ratio (INR) is therapeutic. The aim of this case report was to bring attention of increased risk of acute thrombotic episodes in patients with APS.

Case description: We describe the case of a 69-year-old man with APS who developed recurrent stent thrombosis with subsequent myocardial injury, which led to acute heart failure. A failure to adequately anticoagulated might be contributed to recurrent thrombosis. In retrospect review of the case, one of the predisposing factors could be when the patient was sub-therapeutic INR, appropriate bridging with low molecular heparin was not given. The treatment goal was best medical management for heart failure, cardiac rehabilitation, and maintaining a therapeutic INR for APS. In the long-term follow-up of this patient, he did not develop further thrombotic episodes after discharge from the hospital.

Conclusions: In APS, there is an increased risk of thrombosis episodes in addition to pre-existing patient factors. Major thrombotic episodes are at risk, and these risks need to be stratified according to individual patient factors. Early involvement of multidisciplinary team and adequate anticoagulation could have prevented acute recurrent stent thrombosis.

Background: Small cell neuroendocrine carcinomas (SCNECs) of the gastrointestinal (GI) tract are exceedingly rare and aggressive malignancies. Unlike pulmonary SCNECs, which are well-characterized, extrapulmonary GI-SCNECs lack established diagnostic pathways and treatment algorithms due to their rarity and histopathological overlap with other poorly differentiated tumors. Literature on their clinical course remains limited to isolated reports, with scarce data on site-specific presentations. These two cases contribute to the existing literature by illustrating distinct primary GI sites (gastric and rectal), underscoring the challenges in early diagnosis and the aggressive clinical progression despite intervention.

Case description: The first patient, an 80-year-old man, presented with progressive dysphagia and dyspnea. Imaging revealed mediastinal lymphadenopathy and gastric wall thickening. Endoscopic biopsies confirmed gastric SCNEC with widespread metastases. Despite initiation of palliative care, his condition deteriorated rapidly, and he died one month after diagnosis. The second patient, a 69-year-old man, presented with significant weight loss and lower abdominal pain. Colonoscopy identified a circumferential rectal mass, and biopsies confirmed SCNEC. Staging demonstrated hepatic and nodal metastases. He received platinum-based chemotherapy and pelvic radiotherapy, achieving only transient stabilization. Following treatment cessation, his disease progressed, and despite resuming chemotherapy, he died 11 months after diagnosis.

Conclusions: These cases emphasize the necessity for heightened clinical suspicion of SCNEC in rapidly progressive GI malignancies, even in atypical presentations. Early recognition and multidisciplinary management are crucial, although current therapeutic options offer limited durability. By delineating site-specific clinical courses, this report contributes to the limited body of evidence on GI-SCNECs and underscores the urgent need for standardized diagnostic criteria and treatment protocols to improve outcomes.

Background: Tuberculous lymphadenitis (TBL), a form of extrapulmonary tuberculosis (TB), poses significant diagnostic challenges in primary care, especially when presenting atypically or in patients with underlying autoimmune disorders. Hashimoto's thyroiditis is an autoimmune condition characterised by hypothyroidism and may predispose individuals to opportunistic infections, including TB, due to immune dysregulation. The interplay between autoimmune diseases and TB is complex and not widely understood, particularly in non-endemic regions. This case highlights critical diagnostic considerations required in managing persistent cervical lymphadenopathy, especially in patients with autoimmune thyroiditis, highlighting the need for a systematic and vigilant diagnostic approach to diagnosis and management in primary care.

Case description: We present a 40-year-old Caucasian male with a background of Hashimoto's thyroiditis who initially sought medical care for flu-like symptoms, subsequently diagnosed as a viral upper respiratory tract infection. During examination, an incidental, painless, 3 cm cervical lymph node was identified, initially attributed to reactive viral lymphadenopathy. The patient exhibited no constitutional or respiratory symptoms, which may have contributed to diagnostic delay, particularly in a primary care setting less familiar with extrapulmonary TB, leading to initial conservative management. Three months later, the lymphadenopathy persisted and had increased to 4 cm in diameter, prompting further investigations. Blood tests revealed elevated inflammatory markers, normal thyroid function but elevated anti-thyroid peroxidase (anti-TPO) antibodies consistent with autoimmune thyroiditis. Neck ultrasound showed caseating lymphadenopathy suggestive of TB, and subsequent positive QuantiFERON-TB testing and fine-needle aspiration cytology confirmed the diagnosis of TBL. The patient was successfully treated with a 6-month regimen of anti-tuberculous therapy, achieving complete clinical resolution.

Conclusions: This case underscores the diagnostic complexity associated with TBL in patients with autoimmune diseases such as Hashimoto's thyroiditis. It highlights the necessity for maintaining a broad differential diagnosis for unexplained lymphadenopathy in primary care, particularly when classical symptoms of TB are absent. Primary care clinicians should adopt a proactive approach to persistent lymphadenopathy, including timely escalation to advanced diagnostic tests, to avoid diagnostic delays, ensure timely initiation of effective treatment, and prevent disease progression and potential transmission.

Background: Creutzfeldt-Jakob disease (CJD) is a universally fatal, rapidly progressive neurodegenerative disorder attributable to misfolded prion proteins. Emergency physicians should consider CJD in their differential in a patient presenting with altered mental status, especially those exhibiting rapidly progressive neurologic decline and cerebellar dysfunction on exam. Typical emergency department (ED) testing is non-diagnostic, but a lumbar puncture (LP) is a critical step to diagnosing this disease. Due to the infrequency of presentation, disposal of waste products for infection control can often be overlooked but does require special precautions. High suspicion and prompt detection through specialized cerebrospinal fluid (CSF) studies, in conjunction with neurology consultation, can play a pivotal role in the patient's care and diagnosis of this rare but devastating disease.

Case description: We describe a 75-year-old male presenting with rapid changes in mentation, functional ability, behavior and personality over a period of months. His neurologic exam demonstrated hyperreflexia, dysdiadochokinesia, and a "startle" response with pronounced myoclonus. More common CJD mimics were considered to exclude other reversible causes of infectious, metabolic, autoimmune, and endocrine etiologies without any findings. Due to the rapid onset of symptoms and abnormal neurologic exam findings, we proceeded with an emergent LP and prompt neurology consultation. Neurology recommended magnetic resonance imaging (MRI) and specialized CSF markers 14-3-3 protein, T-tau, real-time quaking-induced conversion (RT-QuIC) testing to be added on to the CSF with admission to their service. Approximately one week into his stay, the diagnosis was confirmed via the specialized CSF testing and MRI findings, providing his family with diagnostic answers for their loved one. Hospice was arranged and the patient passed away several weeks later surrounded by his family and friends.

Conclusions: Despite its rarity, CJD is on the rise and ED providers should have a high suspicion in patients with rapid neurologic decline. Performing a LP, advocating for brain MRI and neurology consultation can play a pivotal role in the patient's care. Understanding how this disease process spreads and how to properly dispose of waste products is essential for the hospital system and the ED provider.

Background: Immune checkpoint inhibitors (ICIs) have improved survival in advanced cancers but may cause immune-related adverse events (irAEs). Cardiovascular irAEs, though rare, can be fatal, with myocarditis as the most serious manifestation. While typically occurring early in therapy, late-onset cases are increasingly recognized. We report a rare case of pembrolizumab-induced myocarditis complicated by severe cardiomyopathy and left ventricular (LV) thrombus.

Case description: A 63-year-old woman with stage IV lung adenocarcinoma on pembrolizumab-based therapy presented with chest pain and elevated troponin. Echocardiography suggested Takotsubo cardiomyopathy, and coronary angiography revealed no obstruction. Ten days later, she returned with worsening chest pain, markedly elevated troponins, and severely reduced ventricular function, raising suspicion for immune-mediated myocarditis. She was treated with high-dose intravenous methylprednisolone, discharged with a wearable cardioverter-defibrillator, and pembrolizumab was permanently discontinued. Two months later, she developed critical limb ischemia. Imaging demonstrated widespread thromboembolic disease, including a large LV apical thrombus. She was managed medically with anticoagulation due to high surgical risk. At 1-year follow-up, her ejection fraction (EF) had improved to 50-55%, and she remained in remission without further systemic therapy.

Conclusions: This case highlights late-onset pembrolizumab-induced myocarditis progressing to severe cardiomyopathy and thromboembolic complications. Prompt recognition, immunotherapy discontinuation, and corticosteroid therapy were associated with cardiac recovery. Clinicians should remain vigilant for delayed cardiovascular irAEs in patients on ICIs. Multidisciplinary care and heightened awareness may improve outcomes and guide future management strategies.