Journal of Medical Case Reports最新文献

Background: Burkitt's lymphoma is a highly aggressive B cell non-Hodgkin lymphoma that typically presents with abdominal tumors or jaw involvement, depending on the variant. Involvement of the skull base or paravertebral regions and associated symptoms such as hearing loss are exceedingly rare in Burkitt's lymphoma. This case highlights the diagnostic challenges when Burkitt's lymphoma presents with such uncommon manifestations in an adult patient.

Case presentation: We report a case of a 36-year-old South Asian male individual who presented with generalized body pain, fever, headache, and epigastric discomfort, later developing right-sided facial palsy and hearing loss. Examination revealed mild icterus, lymphadenopathy, and signs of cranial nerve VII involvement. Imaging showed an ill-defined mass at the skull base extending into paravertebral spaces. A comprehensive workup found hematological abnormalities (mild anemia, severe thrombocytopenia) and evidence of hepatic dysfunction. Serologies were notable for positive Epstein-Barr virus IgG. Biopsy of the lesion confirmed Burkitt's lymphoma, demonstrating the characteristic "starry sky" pattern and a near-100% Ki-67 proliferation index. Immunophenotyping was positive for CD20 and leukocyte common antigen, consistent with high-grade B cell lymphoma. Despite initiation of diagnostic procedures, the patient's condition deteriorated rapidly. He opted to return to his home country and unfortunately passed away 2 weeks after diagnosis, before definitive therapy could be administered.

Conclusion: This case underscores the importance of recognizing atypical presentations of Burkitt's lymphoma, such as skull base involvement and hearing loss. A high index of suspicion and a multimodal diagnostic approach (imaging and histopathology) were crucial for accurate diagnosis. Early identification of such rare presentations is vital to initiate prompt, appropriate therapy and improve patient outcomes.

Background: Thrombotic thrombocytopenic purpura is a rare and life-threatening hematologic disorder. We present the case of a 66-year-old man who developed acquired thrombotic thrombocytopenic purpura as the first manifestation of acute myeloblastic leukemia. This case emphasizes the importance of considering underlying malignancy in atypical thrombotic thrombocytopenic purpura presentations.

Case presentation: We report the case of a 66-year-old Lebanese male patient, a heavy smoker, who presented with drowsiness and confusion; 1 month before his presentation, he presented with pruritic ecchymosis skin lesions, which were initially misdiagnosed as superinfected fungal lesions. Laboratory tests at the emergency department revealed bicytopenia (hemoglobin at 5.2 g/dL, platelets at 16,000), renal failure, and liver dysfunction disturbances. Further investigations confirmed microangiopathic hemolytic anemia, with a peripheral blood smear showing 3% schistocytes and hepatosplenomegaly, leading to a diagnosis of thrombotic thrombocytopenic purpura. Urgent treatment with plasmapheresis was initiated, and bone marrow aspirate demonstrated 27% myeloblasts consistent with acute myeloblastic leukemia with maturation (M2 subtype, according to the French-American-British classification). ADAMTS13 levels were severely reduced, confirming the presence of thrombotic thrombocytopenic purpura. Despite transient neurological improvement, the patient showed no significant biological response and passed away 5 weeks after diagnosis, highlighting the complexity and severity of his condition.

Conclusion: This case presents a rare instance of thrombotic thrombocytopenic purpura as an initial presentation of acute myeloblastic leukemia, highlighting the need to maintain a high degree of clinical suspicion for neoplastic causes in atypical thrombotic thrombocytopenic purpura. Although the association between acute myeloblastic leukemia and thrombotic thrombocytopenic purpura is anecdotal, the unusual clinical features, including atypical skin lesions in a 65-year-old patient with constitutional symptoms, led to the acute myeloblastic leukemia diagnosis. The pathophysiology may involve anti-ADAMTS13 antibodies or ADAMTS13 deficiency. Treatment is based on standard thrombotic thrombocytopenic purpura therapy (corticosteroids, plasmapheresis, and rituximab) while treating the underlying acute myeloblastic leukemia. A neoplasm, particularly a hematologic neoplasm, should be suspected in any elderly patient presenting with atypical thrombotic thrombocytopenic purpura. Given the poor prognosis of both entities separately, their association remains fatal.

Background: Pediatric cancer therapies often cause severe dental developmental disturbances. While extractions are common, biological rehabilitation using autotransplantation is rarely reported, particularly in patients with secondary malignancies and complex medical histories. This case describes multidisciplinary oral rehabilitation using tooth autotransplantation, guided implant placement, and three-dimensional digital planning in a young patient with dual pediatric malignancies and severe dental anomalies.

Case presentation: A 17-year-old White female patient from Latvia presented with multiple dental anomalies following intensive treatment for rhabdomyosarcoma at the age of 11 years and subsequent B-cell precursor non-Hodgkin lymphoma at the age of 14 years. Oncologic management included systemic chemotherapy, intrathecal therapy, and image-guided fractionated intensity-modulated radiation therapy to the entire brain and spinal cord (18 Gy total dose, 2 Gy per fraction, 9 fractions), resulting in severe root resorption of tooth 16, bilateral agenesis of mandibular second premolars (35, 45), and structural malformations of third molars. Treatment involved orthodontic space preparation, extraction of tooth 16, and autotransplantation of tooth 28 using a cone-beam computed tomography-guided three-dimensionally printed replica. Guided implant placement was performed in sites 35 and 45 after space opening. Extracted third molars were analyzed using micro-computed tomography, revealing therapy-induced disorganized dentin-pulp morphology and abnormal mineralization. At 3-year follow-up, the autotransplanted tooth exhibited complete root maturation and stable periodontal integration. Both implants showed stable osseointegration with no complications at 2-year follow-up. The patient reported high functional and aesthetic satisfaction.

Conclusions: Biological rehabilitation using tooth autotransplantation and guided implant placement is feasible and effective in select patients post-oncology who have severe therapy-related dental anomalies. Integration of three-dimensional digital planning improves surgical accuracy and treatment outcomes. Interdisciplinary care is essential for managing complex oral rehabilitation after pediatric cancer therapy.

Background: Cellular angiofibroma is a rare, benign mesenchymal tumor most commonly arising in the vulvovaginal region in middle-aged to elderly women. Despite its indolent nature, it is frequently misdiagnosed due to a nonspecific clinical presentation and its resemblance to other vulvar masses.

Case report: We present a case of a 65-year-old postmenopausal woman with a neglected, slowly growing giant pedunculated mass on her left labia majora that developed over 5 years. The patient underwent surgical excision and cosmetic reconstruction, with an uneventful postoperative recovery. Histopathological examination confirmed a benign myxoid spindle cell neoplasm consistent with cellular angiofibroma.

Discussion and conclusion: This case highlights the challenges in the diagnosis of cellular angiofibroma owing to the tumor's often nonspecific presentation and emphasizes the importance of surgical excision as the standard treatment, despite a low reported risk of recurrence even with positive surgical margins.

Background: Non-Hodgkin lymphoma is one of the most common types of lymphoma affecting the gastrointestinal tract. This malignancy can originate from either B-lymphocytes or T-lymphocytes. Intestinal perforation due to non-Hodgkin lymphoma is a relatively rare occurrence, and when it does happen, it typically arises after the initiation of chemotherapy. In the reported case, the perforation happened prior to the chemotherapy, making the case unusual. We aim to highlight the importance of maintaining a high index of suspicion and the critical role of timely, multidisciplinary management in improving patient outcomes.

Clinical presentation: A 27-year-old male farmer from a rural area in North West Gondar, Ethiopia, was referred to our hospital for further evaluation and management. He initially presented to the referring facility with a 1-week history of abdominal pain. The pain began as a periumbilical discomfort during the first 5 days and later progressed to become diffuse, involving all regions of the abdomen. He also reported three episodes of vomiting and a high-grade fever that had persisted for the last 2 days. Due to lack of timely histopathologic evaluation, confirmatory diagnosis was done after 1 month of surgical intervention.

Conclusion: Intestinal perforation caused by lymphoma is a rare occurrence in clinical practice, especially before the initiation of chemotherapy. When such perforation does occur, it is often misdiagnosed or diagnosed late due to its atypical clinical presentation. In many cases, the diagnosis is only established postoperatively following histopathological examination.

Background: Tuberculous arthritis of the knee is an uncommon manifestation of extrapulmonary tuberculosis that can be misdiagnosed and lead to severe joint destruction.

Case presentation: We report a rare case of a 40-year-old Buddhist male patient from Bhutan with an 18-year history of progressive knee stiffness and pain following sports-related knee injury, later diagnosed as tuberculous arthritis. After delayed diagnosis and treatment, the patient underwent successful total knee arthroplasty performed by an international surgical team.

Result: Postoperatively, the patient regained 90° of flexion with full extension at 6 months, with no evidence of recurrence.

Conclusion: This case highlights the importance of maintaining a high index of suspicion for tuberculous arthritis in endemic regions and illustrates how delayed but appropriate surgical intervention can restore function and quality of life.

Background: Ivemark syndrome is a rare heterotaxy disorder characterized by right atrial isomerism, complex congenital heart defects, and thoraco-abdominal anomalies. Because of such defects, survival beyond infancy is rare.

Case presentation: We report a case of a 31-year-old North African male with lifelong cyanosis who presented with worsening exertional dyspnea and fatigue. A segmental approach revealed heterotaxy with right atrial isomerism, a complete atrioventricular septal defect, a functional single ventricle with L-transposition of the great arteries, and severe valvular and supravalvular pulmonic  stenosis. Despite these complex anomalies, the patient maintained a balanced circulation that enabled survival into adulthood. A multidisciplinary team recommended a palliative care approach, including intravenous hydration, iron supplementation, allopurinol, and preventive measures for infective endocarditis. The patient remains under regular noninvasive follow-up, with a stable condition.

Conclusion: This case highlights the rare adult presentation of Ivemark syndrome. Long-term survival is exceptionally rare and depends on balanced hemodynamics, comprehensive evaluation, and individualized multidisciplinary care.

Background: Multiple myeloma is a malignant plasma cell disorder primarily involving the bone marrow and skeleton, leading to anemia, renal dysfunction, and lytic bone lesions. Extramedullary disease, seen in about 9% of cases, reflects aggressive disease biology with poor prognosis. Common sites include the pleura, liver, and gastrointestinal tract, while pericardial involvement is exceedingly rare and often detected postmortem. Fewer than 25 cases of pericardial effusion or cardiac tamponade due to multiple myeloma have been reported, usually in advanced disease. The mechanism likely involves hematogenous spread or direct extension from adjacent lesions, often associated with high-risk cytogenetic abnormalities. This case presents an unusual first manifestation of multiple myeloma as pericardial effusion with tamponade physiology, emphasizing the need to consider hematologic malignancy in unexplained pericardial effusion, especially in resource-limited settings.

Case presentation: A 60-year-old Ethiopian man presented with a 6-month history of progressive dry cough, dull chest pain, and worsening shortness of breath. He had been repeatedly treated for pneumonia and pulmonary tuberculosis without improvement. Chest computed tomography revealed a large pericardial effusion with features of cardiac tamponade. Echocardiography confirmed pericardial fluid causing right atrial and ventricular collapse. Pericardiocentesis drained 800 mL of hemorrhagic fluid, and cytology showed atypical plasma cells. Further evaluation, including serum protein electrophoresis and bone marrow biopsy, confirmed multiple myeloma. The patient was managed with Pericardiocentesis and systemic chemotherapy, showing clinical and radiologic improvement, highlighting the rarity of pericardial involvement as an initial presentation of multiple myeloma.

Conclusion: Pericardial involvement in multiple myeloma is an extremely rare and serious manifestation, usually signifying advanced or aggressive disease. While malignant pericardial effusions are commonly due to solid tumors, multiple myeloma should also be considered when no other cause is identified. Early echocardiography-guided pericardiocentesis is lifesaving, and definitive procedures such as a pericardial window may prevent recurrence. This case highlights the importance of suspecting hematologic malignancy in patients with unexplained pericardial effusion or cardiac tamponade. Early recognition and prompt initiation of systemic therapy can improve survival, particularly in resource-limited settings where diagnostic challenges are common.

Background: Spring coil migration is a rare cause of gastrointestinal bleeding and a rare, delayed complication of arterial embolization. There is no consensus on the treatment of gastrointestinal bleeding due to coil migration. We present the case of a 70-year-old Chinese male who experienced duodenal ulcer bleeding caused by coil migration and recovered well after undergoing open surgery.

Case presentation: A 70-year-old Chinese male was admitted to the department of gastroenterology with complaints of hematemesis and melena, followed by a comprehensive diagnostic evaluation. The final diagnosis was gastrointestinal hemorrhage due to a fistula between a hepatic aneurysm and a duodenal bulb ulcer, precipitated by spring coil migration. The patient underwent surgical repair of the duodenal fistula, resection of the common hepatic artery, and ligation of the celiac trunk. Postoperatively, the patient recovered well, with complete resolution of symptoms, including vomiting and melena.

Conclusion: Coil displacement is a rare but potentially serious complication following aneurysm embolization. Currently, there is no standardized treatment protocol for this condition. Multidisciplinary decision-making facilitates open surgery in cases of life-threatening hemorrhage.