Journal of investigative medicine high impact case reports最新文献

Hemophagocytic lymphohistiocytosis (HLH) secondary to Histoplasma capsulatum is rare, impacting <1% globally, with a mortality rate of up to 31%. Herein, we present a rare case of HLH secondary to H capsulatum, affecting a 57-year-old female with rheumatoid arthritis. Extensive investigations were unrevealing and despite broad-spectrum antibiotics, her condition worsened, leading to respiratory failure requiring extracorporeal membrane oxygenation (ECMO) support, shock requiring multiple vasopressors, and acute kidney injury (AKI) requiring hemodialysis. Diagnosis confirmed disseminated histoplasmosis (DHP), prompting Amphotericin B and methylprednisolone treatment, resulting in significant improvement and discharge with posaconazole therapy. Secondary HLH, primarily arising from severe infections like DHP, is discussed. Limited research exists on this condition in human immunodeficiency virus (HIV)-seronegative individuals. Diagnosis involves HLH-2004 and HScore criteria. Managing histoplasmosis-associated HLH remains challenging due to multiorgan failure risks and treatment complexities and needs further research.

Here, we report an individual, eventually diagnosed with HMG-CoA synthase deficiency, who presented with a cyclic vomiting phenotype. HMG-CoA synthase deficiency is a rare disorder affecting ketone body synthesis in which affected individuals typically present at a young age with hypoketotic hypoglycemia, lethargy, encephalopathy, and hepatomegaly, usually triggered by catabolism (e.g., infection or prolonged fasting). This individual presented with recurrent episodes of vomiting and lethargy, often associated with hypoglycemia or hyperglycemia, at 3 years of age. Metabolic labs revealed nonspecific abnormalities in her urine organic acids (showing mild elevation of dicarboxylic acids with relatively low excretion of ketones) and a normal acylcarnitine profile. Given her clinical presentation, as well as a normal upper gastrointestinal series, esophagogastroduodenoscopy with biopsies, and abdominal ultrasound, she was diagnosed with cyclic vomiting syndrome at 3 years of age. Molecular testing completed at 7 years of age revealed a previously reported pathogenic sequence variant (c.1016+1G>A) and a novel likely pathogenic deletion (1.57 kB deletion, including exon 1) within HMGCS2 consistent with HMG-CoA synthase deficiency. This individual's presentation, mimicking cyclic vomiting syndrome, widens the clinical spectrum of HMG-CoA synthase deficiency. In addition, this case highlights the importance of molecular genetic testing in such presentations, as this rare disorder lacks specific metabolic markers.

Primary gastric Burkitt's lymphoma is an aggressive non-Hodgkin's lymphoma that has been rarely reported in the literature. The majority of primary gastric lymphomas are diffuse large B-cell lymphomas and mucosa-associated lymphoid tissue (MALT) lymphomas. Patients with primary gastric Burkitt's lymphoma can present with abdominal pain, hematemesis, melena, perforation, and obstruction. Diagnosis is made with a combination of clinical, radiological, and pathological findings. Treatment data are limited due to the limited cases reported. We present a case of a 47-year-old female who presented with diffuse abdominal pain, melena, and coffee-ground emesis that was diagnosed with primary gastric Burkitt's lymphoma following biopsies taken from a gastric ulcerated mass found on upper endoscopy.

Cutaneous squamous cell carcinoma (cSCC) comprises 20% of cases of nonmelanoma skin cancers in the United States. In total, 3% to 5% of squamous cell carcinoma (SCC) are metastatic at the time of presentation, associated with significant mortality due to a lack of standardized treatment options. In total, 95% of these tumors are amenable to the initial standard of treatment, which is surgical resection. However, a small percentage of them require systemic therapy as they are either locally advanced to regional lymph nodes or have distant metastasis. The common sites of presentation of cSCC are the scalp and the face with predictable spread to the intra-parotid, upper jugular, and perifacial lymph nodes. In our case report, however, our patient had a large lump lesion on the upper back, an unusual site of presentation of cSCC, with locally advanced metastasis to the left axillary lymph nodes. Subsequently, the tumor marker study revealed a positive SMARCA4 variant (the essential ATPase subunit of the Switch (SWI)/Sucrose Nonfermenting (SNF) chromatin-remodeling complex) that is even rarer in the context of cSCC. Furthermore, abnormalities in SWI/SNF chromatin-remodeling complex subunits have shown promising results as a target therapy for immune checkpoint inhibitor (ICI) therapy. We present an atypical presentation site of locally advanced rare variant SMARCA4-positive cSCC in a patient who received treatment with chemoradiation and systemic therapy with ICI after primary surgical resection. To date, only 2 cases of SMARCA4-positive cSCC were found in the literature with no details of the treatment received. Our case is unique in its atypical site of presentation as well as showing partial response to radiotherapy (RT) and systemic therapy with ICI.

Hepatic encephalopathy is uncommon in the absence of cirrhosis. We report a 71-year-old woman who presented with altered mental status in the setting of hyperammonemia for the second time in 6 months. Magnetic resonance imaging of the abdomen revealed an uncommon portosystemic shunt involving an enlarged posterior branch of the right portal vein and an accessory right hepatic vein, with no features of cirrhosis. Appropriate management of these patients with ammonia-lowering therapy can reduce repeat episodes and improve quality of life. This case demonstrates the importance of diagnosing non-cirrhotic hepatic encephalopathy in patients with altered mental status.

Primary cardiac lymphoma is an exceedingly rare malignant tumor, with diffuse large B-cell lymphoma (DLBCL) being the most prevalent histological subtype. This disease has non-specific clinical manifestations, making early diagnosis crucial. However, DLBCL diagnosis is commonly delayed, and its prognosis is typically poor. Herein, we report the case of a 51-year-old male patient with DLBCL who presented with recurrent chest tightness for 4 months as the primary clinical symptom. The patient was admitted to the hospital and diagnosed with acute myocardial infarction and left ventricular hypertrophy with heart failure. Echocardiography revealed a progression from left ventricular thickening to local pericardial thickening and adhesion in the inferior and lateral walls of the left ventricle. Finally, pathological analysis of myocardial biopsy confirmed the diagnosis of DLBCL. After treatment with the R-CHOP chemotherapy regimen, the patient's chest tightness improved, and he was discharged. After 2 months, the patient succumbed to death owing to sudden ventricular tachycardia, ventricular fibrillation, and decreased blood pressure despite rescue efforts. Transthoracic echocardiography is inevitable for the early diagnosis of DLBCL, as it can narrow the differential and guide further investigations and interventions, thereby improving the survival of these patients.

Pubic rami fractures in the geriatric population are usually osteoporotic fractures resulting from low energy trauma and are characterized as stable injuries. Established treatment of these injuries is conservative, including rest, analgesic medication, and progressive active mobilization. These injuries are life-threatened when pubic rami fractures are accompanied by acute bleeding, either from an injury to a vessel (corona mortis) or from medication (anticoagulant or antiplatelet) for comorbidities, then. In this case study, we present the unusual case of an 82-year-old woman admitted to the emergency department 24 hours after a simple fall, causing nondisplacement osteoporotic pubic rami fracture, who, after 48 hours, developed a hematoma on the contralateral side of the pelvis, with progressive anemia and acute abdominal pain. This study has 2 objectives: to increase awareness of this life-threatening injury in the emergency department and to describe diagnosis and treatment modalities.

Brain abscess is a life-threatening infection that can occur secondary to contiguous or hematogenous spread. Several underlying conditions can lead to brain abscesses, such as dental infection, otitis media, sinusitis, and immunosuppression. Esophageal perforation leading to brain abscesses is extremely rare. We report a rare case of a 32-year-old man who presented to the emergency department with progressive headaches and upper-extremity weakness. Upon further evaluation, computed tomography (CT) revealed multiple brain abscesses secondary to Streptococcus intermedius infection. The patient eventually underwent esophagogastroduodenoscopy (EGD), which showed a perforation in the middle third of the esophagus. This case highlights the importance of considering esophageal perforation as a predisposing condition for brain abscesses.

Pulmonary embolism (PE) poses a significant health risk in the United States, with high mortality rates. Clinicians maintain a low threshold for suspecting PE, potentially leading to deviation from guideline-recommended algorithms and unnecessary computed tomography pulmonary angiography (CTPA). This case discusses a 46-year-old woman who presented with symptoms suggestive of PE following a prolonged road trip. Despite a low Wells score and negative D-dimer results, she underwent CTPA, resulting in an unnecessary and harmful interventional radiology-guided thrombectomy. This highlights the importance of adhering to guidelines in PE diagnosis to mitigate potential harms associated with the overuse of available medical tools.

Pulmonary contusion (PC), defined as damage to the lung parenchyma with edema and hemorrhage, has classically been associated with acceleration-deceleration injuries. It is a frequent pathology in clinical practice. However, its clinical presentation and imaging findings are nonspecific. Patients with this entity can present with findings that can range from mild dyspnea to life-threatening respiratory failure and hemodynamic instability. We present the case of a 61-year-old man, a former smoker, who presented to the emergency department after suffering blunt chest trauma. On admission, he complained of only mild shortness of breath, and his vital signs were typical. Initial imaging identified asymmetric pulmonary infiltrates and mediastinal lymphadenopathy; this was suspicious for additional pathology in addition to PC. After an exhaustive evaluation, a neoplastic or infectious disease process was ruled out. Even though the patient presented with a clinical deterioration of respiratory function compatible with secondary acute respiratory distress syndrome, there was a complete recovery after supportive measures and supplemental oxygen. In conclusion, the nonspecific clinical and imaging findings in patients with pulmonary contusion warrant a complete evaluation of these cases. An early diagnosis is essential to establish adequate support and monitoring to prevent possible complications that could worsen the patient's prognosis.