American Journal of Case Reports最新文献

BACKGROUND Necrotizing fasciitis, a subtype of necrotizing soft-tissue infection, is a rare but life-threatening condition that requires a prompt and decisive approach. Early surgical debridement remains a key treatment; however, after debridement, the management of complex wounds, particularly in high-risk patients, remains a major clinical challenge and often requires prolonged hospitalization and multiple surgical interventions. These situations may warrant alternative techniques, such as negative pressure wound therapy, to support effective wound healing. This case demonstrates that a bedside strategy to manage necrotizing fasciitis may offer a safe and effective alternative in patients for whom repeated operations carry substantial risks. CASE REPORT A 52-year-old woman with multiple comorbidities developed abdominal necrotizing fasciitis. After the initial radical debridement, all subsequent interventions were successfully performed at the patient's bedside, including negative pressure wound therapy, continuous antiseptic irrigation with an elastomeric infusion pump, and kinesiotaping. This minimally invasive approach resulted in complete wound closure within 3 months, without requiring additional surgical procedures. CONCLUSIONS This case highlights the potential of bedside management in selected patients with necrotizing fasciitis, particularly those exhibiting a high risk of surgical complications. Adjunctive therapies such as negative pressure wound therapy and kinesiotaping played a key role in accelerating wound healing and reducing treatment costs. Bedside strategies may offer a cost-effective alternative to conventional operative care in some cases of necrotizing fasciitis.

BACKGROUND Post-radiation angiosarcoma (PRA) is a rare, invasive mesenchymal tumor associated with prior cancer radiotherapy. The diagnostic criteria for PRA include a history of radiation exposure, the development of a new malignant tumor with a long latency period within the irradiated field, and a histological type different from that of the primary malignancy if radiation was administered for the original cancer. Although PRA can arise in any part of the body, it most commonly occurs in the skin. Only a few cases of vascular sarcoma secondary to radiotherapy for cervical cancer have been reported, and reports of peritoneal angiosarcoma following pelvic irradiation for cervical cancer are exceedingly rare. CASE REPORT A 69-year-old woman presented with abdominal discomfort 22 years after receiving radiation therapy for cervical cancer. Imaging and laboratory evaluations failed to reveal a definitive cause, leading to suspicion of recurrence or metastasis of cervical cancer. The patient underwent surgical exploration; postoperative histopathology with immunohistochemistry confirmed the diagnosis of angiosarcoma. She subsequently received 4 cycles of chemotherapy with paclitaxel, carboplatin, and bevacizumab. However, 4 months after surgery, computed tomography revealed new lesions in the abdominal cavity and intestinal wall. The patient ultimately died of disease progression. CONCLUSIONS This case illustrates a rare instance of peritoneal angiosarcoma occurring after radiotherapy for cervical cancer. Clinicians should maintain a high index of suspicion for secondary malignancies in long-term cancer survivors presenting with new-onset peritoneal symptoms. Secondary peritoneal angiosarcoma should be considered in patients with prior radiation exposure and peritoneal involvement.

BACKGROUND Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a rare pediatric condition that can present with rapidly progressive glomerulonephritis and is characterized by necrotizing crescentic glomerulonephritis. While there are no specific pediatric treatment guidelines, rituximab has shown promising benefits in the management of pediatric AAV. This report presents a case of AAV in a 6-year-old girl treated with rituximab and mycophenolate mofetil, resulting in remission that was maintained at 5-year follow-up. CASE REPORT A 6-year-old girl with eczema herpeticum presented with progressive bilateral lower extremity pain, weakness, and intermittent fever and later developed microscopic hematuria. Initial workup revealed proteinuria, elevated inflammatory markers, and renal biopsy findings of pauci-immune crescentic glomerulonephritis, with positive perinuclear ANCA and myeloperoxidase antibodies, confirming AAV. She was initially treated with corticosteroids without improvement, but subsequent rituximab induction followed by mycophenolate mofetil maintenance resulted in clinical improvement. At 5-year follow-up, she remained in remission while receiving enalapril and annual rituximab therapy. CONCLUSIONS This report presents a rare occurrence of AAV in a pediatric patient and demonstrates the challenges in treating this condition given the lack of pediatric-specific treatment protocols. Further research and case reports are essential in the development of standardized and evidence-based treatment strategies tailored to the pediatric population. This case highlights that AAV, while rare in children, can be effectively managed with rituximab and mycophenolate mofetil to achieve long-term remission.

BACKGROUND Gyrate atrophy is a rare metabolic disease that profoundly impacts the choroid and retina. This condition is recognized for its ocular comorbidities, including a predisposition to the development of posterior subcapsular cataract and compromised zonular integrity, both of which ultimately necessitate surgical management. While cataract surgery is a common intervention, it can have long-term sequelae. Intraocular lens (IOL) opacity is a known complication, with various morphological patterns documented in the ophthalmic literature. However, no specific pattern of IOL opacification has been previously reported in an individual with gyrate atrophy. This paper describes a novel and previously unreported pattern of intraocular lens (IOL) opacification in a patient with gyrate atrophy. CASE REPORT We present the case of a 37-year-old man with genetically confirmed gyrate atrophy who experienced a significant decline in vision following an initially uncomplicated cataract surgery. He later developed a late subluxation of the IOL and subsequently formed distinctive rosette-shaped opacities on the lens implant. He underwent successful surgical removal and insertion of a scleral-tucked IOL along with anterior vitrectomy. Analysis of the material on microscopy and histopathology revealed unique crystalline deposits that stained positive with von Kossa stain and showed birefringence under polarized light, consistent with calcium oxalate - a finding not previously associated with IOL opacification. CONCLUSIONS To the best of our knowledge, these opacities have never been described in a patient with gyrate atrophy. This case report shows the need for regular monitoring for patients with gyrate atrophy after cataract surgery and proposes a potential pathophysiological mechanism linking this complication to gyrate atrophy.

BACKGROUND VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a recently recognized autoinflammatory disorder of adulthood caused by somatic mutations in the UBA1 gene. It is characterized by systemic inflammation, cytopenias, and frequent overlap with myelodysplastic syndromes (MDS). Because of its clinical heterogeneity, diagnosis is often delayed or confounded by coexisting autoimmune or hematologic disorders. CASE REPORT We describe a male patient presenting with hyperchromic macrocytic anemia initially suspected to indicate MDS. Extensive diagnostic evaluation revealed no evidence of monoclonal gammopathy or autoimmune activity consistent with systemic lupus erythematosus, which had been part of the patient's medical history. Bone marrow analysis showed vacuolization of erythroid and myeloid precursors, and molecular testing identified a UBA1 missense mutation (c.122T>C, p.Met41Thr), confirming the diagnosis of VEXAS syndrome. Additional MDS-like features were present. Given the overlap with MDS, treatment with the hypomethylating agent azacitidine was initiated. CONCLUSIONS This case highlights the diagnostic challenges of VEXAS syndrome, particularly in patients with preexisting autoimmune conditions. The observation of bone marrow vacuolization proved decisive for diagnosis. Azacitidine was chosen based on its potential dual benefit in controlling both the clonal hematopoiesis and systemic inflammation. Emerging evidence indicates that azacitidine may be effective even in non-MDS VEXAS, providing a promising therapeutic approach in the absence of standardized treatment. Early recognition and molecular confirmation of UBA1 mutations are essential for accurate diagnosis and management of this rare but increasingly recognized condition.

BACKGROUND Atrial myxomas are benign cardiac tumors that can embolize and cause arterio-occlusive complications associated with substantial morbidity and mortality. Recurrence after surgical resection is uncommon, and distant metastasis is exceedingly rare. We describe a young patient who concomitantly experienced 2 rare and serious manifestations of atrial myxoma: tumor recurrence after many years and cerebral metastasis. CASE REPORT A 33-year-old man with a history of left atrial myxoma resection at age 19 presented with sudden onset of right facial paresthesia and right arm weakness. Brain imaging revealed bilateral ischemic strokes in the middle cerebral artery territories, leading to suspicion of embolic etiology. Echocardiography confirmed recurrence of the left atrial myxoma; repeat surgical excision was necessary. Several months after surgery, the patient developed new neurologic symptoms. Brain magnetic resonance imaging demonstrated multifocal hemorrhagic lesions with associated vasogenic edema, suggesting metastatic disease. Surgical resection of a left frontal lesion revealed organizing hemorrhage with rare calretinin- and S100-positive cells, implying myxomatous origin. One year later, the patient underwent right parietal craniotomy and gamma knife radiosurgery; pathology confirmed myxomatous tissue intermixed with hemorrhagic and inflamed brain parenchyma. Follow-up echocardiography showed no intracardiac recurrence, indicating that cerebral seeding likely occurred before the second cardiac surgery. CONCLUSIONS This case highlights 2 rare complications of atrial myxoma in a single patient: delayed recurrence and cerebral metastasis. It underscores the need for long-term surveillance, even decades after initial resection, and the consideration of central nervous system metastatic disease in patients with neurologic symptoms and a history of cardiac myxoma.

BACKGROUND Pregnancy complicated by diabetic ketoacidosis (DKA) and hypertriglyceridemic acute pancreatitis (HTG-AP) is a grave and life-threatening emergency for both the expectant mother and the fetus. Physiological insulin resistance and dyslipidemia during pregnancy exacerbate these conditions, creating a vicious cycle of metabolic derangements and systemic inflammation. Multidisciplinary collaboration is critical for prompt diagnosis and tailored management to improve maternal-fetal outcomes. CASE REPORT We present a case of a 28-year-old pregnant woman with a history of gestational diabetes mellitus who developed DKA and HTG-AP at 32 weeks 4 days of gestation, necessitating an emergency cesarean section. A multidisciplinary team implemented a joint management protocol for DKA and HTG-AP, including rapid fluid resuscitation, insulin infusion for glycemic control, electrolyte correction, and emergency cesarean section. Anesthesia management comprised general anesthesia with endotracheal intubation combined with transversus abdominis plane block, along with dynamic monitoring of acid-base homeostasis through serial intraoperative arterial blood gas analyses (n=5). The neonate exhibited significant improvement in Apgar scores following resuscitation, while the mother was transferred to the ICU postoperatively and achieved full recovery after 8 days of comprehensive treatment. CONCLUSIONS This case shows that DKA and HTG-AP during pregnancy constitute critical conditions requiring multidisciplinary collaboration to enable rapid diagnosis, personalized interventions, and precise anesthesia management, all of which are pivotal determinants of improved prognosis.

BACKGROUND Gallbladder volvulus (GV) is a rare surgical emergency caused by the twisting of the gallbladder on its mesentery, leading to vascular compromise and potential necrosis. It primarily affects elderly women but can occur at any age or in either sex. Excessive gallbladder mobility is a key predisposing factor, and the condition often mimics acute cholecystitis, making early diagnosis challenging. Timely recognition is crucial to prevent severe complications. Given its rarity and frequent diagnostic uncertainty, each reported case provides valuable insight, and the present report contributes to the existing literature and serves as a practical example of how such uncommon conditions can be recognized and managed. CASE REPORT We report a case of an 85-year-old women with no significant medical history who presented with a 2-day history of severe right upper quadrant pain, nausea, and vomiting. Initial imaging (ultrasound and CT) was indicative but not typical of acute acalculous cholecystitis. Other differential diagnoses were considered and ruled out. Further review of the ultrasound and CT scans by a specialist radiologist raised suspicion of GV through some radiological pathognomonic signs (eg, the whirl sign). Laparoscopic view revealed a 360° gallbladder torsion, confirming the diagnosis of GV. Laparoscopic cholecystectomy was successfully performed without complications, and the patient had an uneventful recovery. CONCLUSIONS This case highlights the importance of considering GV in the differential diagnosis of abdominal pain in elderly patients. Increased awareness, a comprehensive clinical assessment, and advancements in radiological diagnostics are essential for early diagnosis and timely intervention.

BACKGROUND Aplasia cutis congenita (ACC) is a rare congenital defect involving localized absence of skin, occasionally associated with deeper tissue anomalies and congenital malformations. CASE REPORT We report the case of a full-term newborn presenting with extensive ACC involving 40% of the scalp, alongside multiple congenital heart defects, ultimately consistent with tetralogy of Fallot (ToF). Initial management included conservative wound care, cardiologic and neurologic evaluations, and genetic testing. Despite clinical stability at discharge, the infant was readmitted 3 weeks later with hemorrhagic shock secondary to sagittal sinus bleeding, requiring surgical intervention and intensive care. Subsequent follow-up revealed tonic seizures and radiological findings suggestive of prior mild hypoxic injury. While the Rapid Aneuploidy Detection test confirmed a normal female karyotype (46,XX), whole-exome sequencing was pending; however, Adams-Oliver syndrome was strongly suspected. This case illustrates the diagnostic and management challenges posed by extensive ACC with syndromic associations. It also highlights the limitations of antenatal screening, as no abnormalities were detected during pregnancy despite fetal growth restriction. CONCLUSIONS The case underscores the need for a multidisciplinary approach, parental education, and long-term follow-up. Early recognition and coordinated care are essential for managing potential complications and guiding prognosis in complex cases of ACC with associated congenital anomalies.

BACKGROUND Fontan repair in complex congenital heart conditions involves creating a total cavopulmonary connection, redirecting systemic venous blood to the pulmonary circulation, and bypassing cardiac systemic blood flow. Anesthetic management for a patient with a Fontan circulation requires ensuring adequate preload and avoiding circulatory complications. This report describes the anesthetic management of a 32-year-old woman undergoing laparoscopic surgery with a history of Fontan repair of a complex congenital heart defect. CASE REPORT A 32-year-old woman with transposition of the great arteries, hypoplastic right ventricle, tricuspid atresia, and non-communicating vena cavae underwent Fontan repair at 12 months of age (total cavopulmonary connection with extracardiac conduit). She presented for laparoscopy for suspected ovarian cancer. Preoperative cardiac magnetic resonance imaging revealed Fontan conduit patency and borderline systemic ventricular function. Anesthetic management included advanced monitoring (FloTrac-derived cardiac index, stroke volume, stroke volume variation), tailored induction with slow titration of propofol, ventilation with low tidal volumes and zero positive end-expiratory pressure, and vigilant fluid management. During pneumoperitoneum (12 mmHg), decreased stroke volume and mean arterial pressure were corrected with fluid boluses. At the end of surgery, the patient was extubated uneventfully and monitored in the postoperative intensive care unit for 36 hours. CONCLUSIONS Laparoscopic surgery in patients with Fontan circulation poses significant anesthetic challenges. This case highlights the importance of ensuring adequate preload, minimizing pulmonary vascular resistance, maintaining low intra-abdominal pressure, and using advanced hemodynamic monitoring to guarantee perioperative safety.