American Journal of Case Reports最新文献

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.

BACKGROUND Toluene poisoning can occur as a result of occupational exposure in industries such as painting, as well as through misuse, leading to complications such as neurological symptoms due to the accumulation of the metabolic byproduct of hippuric acid and metabolic acidosis. However, the exact mechanisms remain unclear. Hippuric acid is not removed by dialysis, so urinary excretion plays a central role. Symptomatic treatment, primarily involving fluid replacement, remains the standard approach for managing toluene toxicity. Nonetheless, the effectiveness of hemodialysis as a supplementary treatment for toluene poisoning has not yet been conclusively determined. CASE REPORT We present a case of toluene poisoning with prerenal injury in a 52-year-old man with a long history of painting work, which occurred during the summer months. Due to insufficient response to fluid therapy and the persistence of metabolic acidosis, hemodialysis was initiated. Urinary hippuric acid excretion increased after dialysis, suggesting a renoprotective effect of dialysis despite the high protein binding and low dialysability of hippuric acid. This indicates that hemodialysis is a viable treatment option. Following treatment, a furosemide + fludrocortisone loading test was performed to evaluate the reversibility of tubular damage caused by hippuric acid. The test revealed no impairment in acidification, suggesting that the renal tubular acidosis induced by toluene toxicity is likely reversible. CONCLUSIONS This case highlights the diagnosis of renal tubular acidosis secondary to acute toluene poisoning, which was unresponsive to conservative fluid therapy and necessitated hemodialysis. Furthermore, a furosemide and fludrocortisone loading test confirmed the reversibility of the toluene-induced renal tubular acidosis.

BACKGROUND Esketamine is the only pharmacological agent with glutamatergic neuromodulator properties approved by the US Food and Drug Administration and European Medicines Agency to enhance the effects of serotonin selective or serotonin and norepinephrine reuptake inhibitors. Treatment-resistant depression (TRD) is a challenging and prevalent condition in the psychiatric field, in which patients often experience persistent and severe depressive symptoms, as well as a higher risk of suicidal thoughts and attempts. Esketamine has demonstrated its safety and effectiveness as a pharmacological therapy for TRD. Our report aims to present 2 cases of depressive symptom deterioration and suicide ideation in patients treated with esketamine. CASE REPORT We present 2 cases of TRD that initially responded well to intranasal esketamine but later deteriorated rapidly, with a worsening of depressive symptoms and suicidal ideation. Upon discontinuing esketamine, both patients clinically improved and showed a reduction in suicide ideation. The evaluation of affective symptoms' response to esketamine and evolution was assessed using the Montgomery-Asberg Scale and Clinical Global Impression Severity and Improvement scales. CONCLUSIONS The underlying cause for the paradoxical antidepressant reaction is not entirely clear, but we observed this phenomenon in 2 patients with TRD who were treated with esketamine. Identifications of paradoxical reactions could be difficult in TRD, with highly resistant responses to treatment and suicidal ideation. However, it is relevant to know the prevalence of this phenomenon and for clinicians to be aware of the complications of esketamine treatment.

BACKGROUND Appropriate management of patients who have fallen is crucial for reducing damage and mortality. We report the case of a patient who fell from a seated position, which caused traumatic liver injury, with gastrointestinal symptoms as the primary patient concern. CASE REPORT A woman in her 80s who was living independently fell from a seated position during the daytime. She presented to our clinic the next day, reporting vomiting and loose stools. Her vital signs included blood pressure of 100/48 mmHg and a pulse rate of 76 beats/minute, with tenderness over the right chest wall. She was suspected of having a fracture in the absence of X-ray imaging and was advised to rest and treated with analgesia on demand. Subsequent laboratory results showed levels of hemoglobin, alanine transaminase, and lactate dehydrogenase of 98 g/L, 659 U/L, and 429 U/L, respectively. At the hospital, a computed tomography scan revealed severe liver injury and rib fractures. Vascular embolization or surgery was not performed, and hematogenous pleural effusion was drained once via thoracentesis. The hematoma did not enlarge, and the patient's ability to perform activities of daily living gradually improved. She was discharged after 10 days of hospitalization. CONCLUSIONS The patient presented with gastrointestinal symptoms, leading to a delayed diagnosis of severe liver injury. Low-energy trauma can cause fatal injuries, and physicians should assess patients who fall for the risk of organ injuries, while being mindful of potential biases. Additionally, non-specific symptoms after trauma can be associated with organ injury.

BACKGROUND Human metapneumovirus (hMPV), classified in the Pneumoviridae family, is primarily known for causing lower respiratory tract infections in children, the elderly, and immunocompromised individuals. However, rare instances have shown that hMPV can also affect other systems, such as the cardiovascular system, leading to conditions like myocarditis. CASE REPORT We describe a 68-year-old man with a medical history of diabetes, hypertension, and liver cirrhosis who presented to the Emergency Department (ED) exhibiting symptoms of fever, cough, and dyspnea. His condition deteriorated rapidly, progressing to septic shock and requiring increased oxygen support, which led to his transfer to the medical intensive care unit (MICU). Diagnostic evaluations, including cardiac echocardiography and coronary angiography (CAG), confirmed the presence of myocarditis while excluding acute myocardial infarction. Despite aggressive interventions, including extracorporeal membrane oxygenation (ECMO) and intra-aortic balloon pump (IABP) therapy, the patient's condition worsened, and he died 3 days after admission. Polymerase chain reaction (PCR) testing of a throat swab confirmed hMPV infection, with Klebsiella pneumoniae simultaneously identified via sputum culture. The bacterial susceptibility report indicated that the bacteria were sensitive to piperacillin/tazobactam, which had been administered since the patient arrived at our ED, which suggests that the bacterial infection alone cannot fully explain the patient's condition. CONCLUSIONS Compared to previously reported cases of hMPV-related myocarditis, this case is the first to demonstrate notably adverse outcomes associated with the concurrent presence of bacterial infection. The rapid progression and poor outcome despite aggressive treatment emphasize the need for early diagnosis and management of such co-infections.