American Journal of Case Reports最新文献

BACKGROUND Studies using transgenic mouse models have demonstrated that estrogen is necessary for the development of cervical cancer, particularly in tissues responsive to estrogen. Estrogen also protects cervical cancer cells from apoptosis, suggesting its role in the survival and persistence of cancer cells. CASE REPORT An 84-year-old woman with diabetes mellitus, hypertension, and stage III chronic renal failure was diagnosed with cervical squamous cell carcinoma, FIGO stage IB2. She underwent complete concurrent chemoradiotherapy, but central recurrence was found 9 months later. However, instead of salvage chemotherapy, substitutionary anti-estrogens were given due to her poor medical condition and advanced age. Complete remission was noted after tamoxifen therapy. Since the cervical cancer relapsed again 40 months after tamoxifen use, the anti-estrogen therapy was shifted to letrozole. The SCC-Ag level decreased dramatically after letrozole therapy, and disease stability was achieved until 29 months afterward. After 5 years and 9 months of anti-estrogen use only, the patient died due to noncancer-related pneumonia and heart failure. CONCLUSIONS This report demonstrates the tumor-stabilizing and therapeutic effect of anti-estrogens in the treatment of squamous cervical carcinoma. Further clinical trials are warranted to evaluate the efficacy of anti-estrogen therapy in cervical cancer patients.

BACKGROUND Simultaneously occuring diffuse large B-cell lymphoma (DLBCL) and Hodgkin lymphoma (HL) is extremely rare. Generally, patients with CD20-positive DLBCL receive rituximab, cyclophosphamide, vincristine, doxorubicin, prednisone (R-CHOP) regimen, while those with HL receive brentuximab vedotin, doxorubicin, vinblastine, dacarbazine (A-AVD) regimen as first-line therapy. Establishing a strategy for treating both lymphoma subtypes concurrently is thus very difficult. We report successful treatment of a patient simultaneously diagnosed with advanced DLBCL and HL. CASE REPORT A 20-year-old man visited the Hematology Department of Kyungpook National University Hospital after the diagnosis of germinal center B-cell DLBCL in the kidney and HL (nodular sclerosis type) in the neck lymph node. His DLBCL was classified as Ann Arbor stage IV with an International Prognostic Index score of 4, a high-risk group. Six cycles of R-CHOP therapy were planned, and central nervous system prophylaxis with intrathecalmethotrexate was added because of the high-risk features of central nervous system involvement. After completing 6 cycles of chemotherapy, without significant adverse events (Deauville score of 1), complete remission was confirmed. Then, the patient decided to undergo consolidative autologous stem cell transplantation (auto-SCT). He received busulfan, cyclophosphamide, and etoposide conditioning regimen, after which auto-SCT was conducted in April 2021. After auto-SCT, the patient was undergoing regular check-ups and doing well, without obvious disease relapse or specific symptoms. He maintained a disease-free status for 40 months to date. CONCLUSIONS Our case showed that R-CHOP regimen was effective not only for DLBCL but also for HL. Notably, consolidative upfront auto-SCT should be considered for a deeper response.

BACKGROUND Varicella-zoster virus (VZV) encephalitis is a commonly reported form of encephalitis that clinically manifests as skin lesions, fever, headache, and neuropsychiatric symptoms. We present a case of a patient with VZV encephalitis complicated by cerebral hemorrhagic transformation, characterized by high levels of inflammation and protein in the cerebrospinal fluid. The aim is to highlight the risk of hemorrhagic transformation associated with VZV encephalitis. CASE REPORT The patient exhibited scattered herpes lesions on the head, neck, and chest. Notably, the cerebrospinal fluid (CSF) protein concentration was markedly elevated at 9049.3 mg/L, with a CSF white blood cell count of 950×10⁶/L, of which lymphocytes constituted 80%. MRI revealed abnormal signal foci in the bilateral temporal lobes and the right frontal lobe, consistent with findings associated with herpes encephalitis. Despite initial treatment with anti-inflammatory agents, acyclovir antiviral, and antiepileptic medications, the patient did not show improvement, prompting the addition of double filtration plasmapheresis. However, the patient experienced hemorrhagic transformation and succumbed to the illness. CONCLUSIONS This case highlights the challenge of managing VZV encephalitis in the context of significant inflammation and protein elevation in the CSF, and underscores the need for further research into more effective therapeutic strategies for this rare but potentially devastating condition.

BACKGROUND The incidence of drug-induced infectious endocarditis is rapidly rising in the United States. Healthcare providers face different challenges in the management of infectious endocarditis in persons who inject drugs, including addiction relapse, non-compliance with treatment, and the associated social stigma. These factors collectively complicate the management of drug-induced endocarditis, requiring comprehensive strategies that address both the medical condition and the underlying substance use disorder, as well as socio-behavioral aspects of patient care. CASE REPORT We present a case of a 33-year-old woman diagnosed with opioid use disorder and a history of tricuspid valve replacement who was transferred from a local emergency room to a general hospital for septic shock secondary to recurrent drug-induced infectious endocarditis. Psychiatry was consulted on day 13 of the admission after the patient was deemed, "not to be a surgical candidate" for second cardiac valve surgery because of a history of non-compliance and a high risk of drug relapse. Throughout her 4-month inpatient hospitalization, she received multiple forms of voluntary and involuntary treatment. The psychiatry consultation/liaison service played a significant role in the patient's care. She successfully engaged in multiple modalities of treatment that led to undergoing a second heart valve surgery. CONCLUSIONS This case highlights the importance of a multidisciplinary approach in management of infectious endocarditis in persons who inject drugs. The use of a civil commitment can allow for the provision of substance use disorder treatment and optimal medical care to an individual who may have lost hope and have temporarily impaired mental faculties.

BACKGROUND Transplant lithiasis may be rare but poses significant risk to the renal graft function of the recipient. Immediate management is necessitated upon first detection, to prevent further complications. CASE REPORT We report 2 cases of transplant lithiasis that were not treated immediately upon first detection. The first patient was a 42-year-old man that received a living-donor kidney from his mother, which was complicated by ureterovesical anastomotic stenosis, BK polyomavirus infection, and oliguria. He had a renal stone and 4 ureteric stones in his right allograft. The second patient was a 39-year-old man that finally received a suitable deceased donor kidney after 6 years of dialysis. A 2-3-mm stone was first detected 6 months after transplantation but was managed conservatively. He required management 8 years after transplantation, due to the presence of 2 renal stones and 4 ureteric stones in the left allograft that led to acute renal failure. Both patients required emergent percutaneous nephrolithotomy for decompression, followed by elective antegrade flexible ureteroscopic lithotripsy. Boot stirrups were used throughout all procedures to facilitate access to the lower-positioned transplant kidney. Complete stone clearance was achieved, as detected by a 1-month postoperative follow-up computed tomography scan. CONCLUSIONS Percutaneous nephrolithotomy and antegrade flexible ureteroscopic lithotripsy was a safe and effective approach for complex transplant lithiasis. Very low lithotomy with boot stirrups improved accessibility to the transplant kidney.

BACKGROUND The thyroglossal duct cyst, which develops from the midline migratory tract between the foramen cecum and the anatomic location of the thyroid, is the most prevalent congenital abnormality of the neck, accounting for about 70% of all cervical neck masses in children and 7% in adults. Only up to 1% of these abnormalities contain malignant thyroid tissue, with 90% of those cases being papillary thyroid carcinoma. Thyroglossal duct cyst is rarely linked to carcinoma. Clinical presentation of thyroglossal duct cyst carcinoma is generally impossible to differentiate from benign tumors before surgery, and most cases are incidentally detected after surgery, due to histopathological evaluation of the resected cyst. CASE REPORT A 46-year-old man presented with a painless, progressively enlarging neck lump. Physical examination identified a well-defined, mildly firm mass situated anteroinferior to the hyoid bone. Imaging indicated that a thyroid gland duct cyst was the most likely diagnosis. The patient underwent the Sistrunk procedure. Histopathological analysis revealed papillary thyroid carcinoma within the thyroid gland duct cyst. CONCLUSIONS Carcinomas occurring in the thyroglossal cyst are uncommon. The causes of thyroglossal duct carcinoma are unclear, and neither a detailed medical history nor a physical examination can reliably diagnose it before surgery. The management of such cases remains debated, owing to the rarity of reported occurrences. So far, the standard treatment involves the Sistrunk procedure, followed by close patient monitoring. For patients with metastatic disease, a total thyroidectomy is necessary, and if neck metastases are present, neck dissection is required.

BACKGROUND Iliac vein injuries usually require surgical intervention due to their high mortality rates. Although conservative management may be applicable in some cases of blunt trauma, the suitability of this approach for treating penetrating injuries remains underexplored. CASE REPORT A 51-year-old man sustained a common iliac vein injury following rectal impalement in a collapsing chair. After initial resuscitation, he underwent an emergency laparotomy, which revealed no ascites or blood in the abdominal cavity. Given the stability of the hematoma, the decision was made to avoid incising the retroperitoneum, thus maintaining the tamponade effect. A double-barrel stoma was fashioned in the transverse colon to address the rectal damage. The patient's postoperative course was initially uneventful, with no confirmed hematoma expansion on the second computed tomography scan. The patient was discharged on postoperative day 11 following a consistent decrease in D-dimer levels. However, 4 days after discharge, he presented with edema in the right lower extremity. He was diagnosed with deep vein thrombosis (DVT) and pulmonary embolism (PE), which were managed with intravenous heparin and direct oral anticoagulant (DOAC). The patient continued follow-up visits without further complications. CONCLUSIONS This report presents the first documented case of conservative management of an iliac vein injury resulting from an impalement wound. It highlights the potential of a nonsurgical approach in stable patients and underscores the importance of considering postoperative prophylactic anticoagulation therapy to prevent DVT and PE.

BACKGROUND Fibrosing mediastinitis (FM) is a rare, fibroproliferative disorder within the mediastinum. It is extremely rare for hematologic malignancies to develop as FM. CASE REPORT A 32-year-old Japanese man with a 1-month history of headache and 2-week history of facial swelling underwent chest computed tomography (CT); a diffuse mass-like lesion was revealed in the anterior mediastinum with severe stenosis of vital mediastinal organs. After a surgical biopsy, an initial diagnosis of idiopathic FM was made. The FM lesions responded mildly to corticosteroids but recurred repeatedly. Sixteen months after the treatment initiation, blasts appeared in the peripheral blood (PB), and the patient was diagnosed with B-acute lymphoblastic leukemia/lymphoblastic lymphoma (B-ALL/LBL). Chemotherapy led to complete remission of the B-ALL/LBL and almost complete disappearance of FM-like lesions. Immunohistochemistry of the mediastinal biopsy specimen taken before the blasts' appearance in PB demonstrated a CD34/CD7/terminal deoxynucleotidyl transferase-positive population, an identical pattern of expression common to the blasts in the patient's PB and bone marrow. CONCLUSIONS This is the first case report of B-ALL/LBL presenting as FM. This case underscores the importance of considering the possibility of latent hematologic malignancy even in the absence of new symptoms other than those caused by FM lesions for a long period of time. This is the first demonstration that leukemia cells may be present in the FM lesions from the initial stage of disease onset. Even if a diagnosis of idiopathic FM is confirmed, continued suspicion of the presence of hematologic malignancy is vital for improving patient outcomes.

BACKGROUND Emphysematous urinary tract infections are rare and serious conditions that are often multifactorial in etiology and may be associated with the presence of renal stones. Diagnosis can be made by finding gas within the renal collecting system or parenchyma. However, the radiographic finding of gas within a renal stone is rare and little has been published to describe the significance of this finding, its promoting factors, and management. While finding a single gas-containing renal stone is rare, we present a patient with multiple gas-containing stones. CASE REPORT A 63-year-old woman with a history of diabetes and recurrent nephrolithiasis was found to have multiple gas-containing renal stones during a workup of gross hematuria. She was currently being treated for a urinary tract infection. Imaging revealed multiple stones with central encapsulated air and hydronephrosis. She underwent subsequent lithotripsy and stent placement due to this concerning finding, but developed sepsis 2 days following treatment. Cultures from the lithotripsy isolated Proteus mirabilis. It is hypothesized that lithotripsy resulted in endotoxin-mediated sepsis. CONCLUSIONS Proper management of gas-containing renal stones in the setting of urinary tract infections includes broad-spectrum antibiotics (carbapenem plus vancomycin if obstruction is present) followed by drainage via percutaneous nephrostomy and then stone removal. Immediate lithotripsy should be avoided in cases of emphysematous pyelonephritis as it can result in endotoxin-mediates sepsis.

BACKGROUND Limb-girdle muscular dystrophy recessive 1 (LGMDR1) is an autosomal recessive degenerative muscle disorder characterized by progressive muscular weakness caused by pathogenic variants in the CAPN3 gene. Desmoplastic small round cell tumors (DSRCT) are ultra-rare and aggressive soft tissue sarcomas usually in the abdominal cavity, molecularly characterized by the presence of a EWSR1::WT1 fusion transcript. Mouse models of muscular dystrophy, including LGMDR1, present an increased risk of soft tissue sarcomas. However, the DSRCT risk and general cancer risk in patients with LGMD is unknown. Here, we delineate the clinical, molecular, and genetic findings of a patient with LGMDR1 who developed a DSRCT. CASE REPORT The patient was a boy who was diagnosed at the age of 9 years with LGMDR1, caused by the biallelic pathogenic variants NP_000061.1:p.(Arg448Cys) and NP_000061.1:p.(Thr184ArgfsTer36) in CAPN3. At 17 years of age, a pathologic soft tissue mass was found in the right pelvis. Immunostaining was positive for Desmin and negative for Myogenin and MyoD1, and RNA sequencing showed a EWSR1::WT1 fusion transcript, confirming the diagnosis of DSRCT. The patient relapsed after 1 year and, following a second relapse, he was started on palliative treatment. No germline variants in childhood cancer predisposition genes were detected by whole genome sequencing. CONCLUSIONS We describe a patient with LGMDR1 who developed a DSRCT. Since associations between LGMD and pediatric cancer are hitherto unknown, further studies are warranted, as little information is currently published about the pediatric cancer risk in this patient group.