Journal of medical cases最新文献

Hemophagocytic lymphohistiocytosis (HLH) is a rare hematological syndrome presenting with massive, dysregulated cytokine release that can result in multiple organ failure and is associated with a high risk of mortality. Based on the recent North American consortium recommendations, it has been suggested to categorize HLH into two entities, HLH syndrome and HLH disease. HLH disease encompasses multiple subgroups, including familial HLH (F-HLH), HLH-associated immune compromise (IC-HLH) and HLH observed after immune activating therapies. The diagnosis can be quite challenging, and the pathophysiology leading to HLH disease has yet to be fully elucidated. Much less is known about HLH that occurs due to treatment with immunotherapy such as immune checkpoint inhibitors (ICIs). Herein, the authors report a case of a 71-year-old man who was treated with a combination of nivolumab and ipilimumab for bladder cancer. He later presented with mental status changes and pancytopenia, ultimately meeting the diagnostic criteria for HLH syndrome.

Immune checkpoint inhibitors like pembrolizumab represent a modern approach to the management of various malignancies, including non-small cell lung cancer. The therapeutic activity of immunotherapy is exerted by the activation of immune cells against the tumor cells. However, systemic activation of the immune system can lead to the development of autoimmune complications known as immune-related adverse events. A combination of rare immune-related adverse events is occasionally observed simultaneously in the same patient. We present the case of a 66-year-old male with squamous non-small cell lung carcinoma who presented to the emergency department with dyspnea and respiratory failure. Imaging findings were consistent with pulmonary embolism and nonspecific interstitial pneumonitis. One month before this event, he was diagnosed with bullous pemphigoid following 21 cycles of treatment with pembrolizumab. The radiological findings, the lack of response to antibiotics, the negative microbiological workup, and the excellent response to corticosteroids established the diagnosis of pembrolizumab-induced pneumonitis. The combination of bullous pemphigoid and pneumonitis secondary to pembrolizumab is rare; only a few case reports exist in the literature. Hence, this case highlights the possibility of multiple immune-related adverse events in the same patient. The exclusion of infectious diseases and other immunologic disorders with a similar clinical presentation is necessary to make the final diagnosis of immune-related adverse events and start the appropriate treatment. Serology, histopathology, and direct immunofluorescence aid to the diagnosis of immune-related bullous pemphigoid; the differential diagnosis includes other pemphigoid or lichenoid diseases, Stevens-Johnson syndrome/toxic epidermal necrolysis, and drug reaction with eosinophilia and systemic symptoms. Imaging, microbiological testing, and bronchoscopy (if possible) confirm the diagnosis of immune-related pneumonitis, which should be differentiated from acute coronary syndrome, cardiogenic pulmonary edema, pulmonary embolism, tumor progression, and lower respiratory tract infections (especially Pneumocystis jirovecii pneumonia in immunocompromised patients). An interdisciplinary approach is necessary for the management of these cases.

Diabetes ketoacidosis (DKA) in pregnancy is associated with significant maternal and neonatal morbidity. It is rare for women without a prior history of diabetes mellitus (DM) to develop DKA. This case report describes an atypical presentation of DKA in a 38-year-old primigravida, with no history of DM, presenting with "unexplained" fetal distress. She presented at 25 weeks to our labor ward triage with an unrelated complaint of prolapsed piles. There were no complaints of reduced fetal movement, abdominal or contraction pains or per vaginal bleeding. Ultrasonography showed an appropriately grown fetus with normal liquor volume. Incidental fetal distress was picked up on a cardiotocography (CTG) which showed a fetal heart rate of 150 beats per minute with reduced variability and shallow decelerations. The unlikely diagnosis of DKA was suspected when a random capillary blood glucose (CBG) level returned as "HI". Investigations revealed the triad of elevated venous glucose, raised serum ketones and high anion gap metabolic acidosis (with a maternal pH of 7.14), consistent with the diagnosis of DKA. She was aggressively treated with intravenous insulin and hydration therapy. Fetal distress resolved with resolution of the DKA. She eventually delivered a healthy baby at 37-week gestation. This case raises awareness of a rare occurrence of DKA in late pregnancy as the first presentation of DM and highlights the importance of considering a hyperglycemic crisis as a potential cause of a suspicious CTG in an asymptomatic woman without any clear reason for fetal distress. Timely diagnosis and prompt treatment of the underlying condition is lifesaving, and avoids urgent delivery and risks associated with prematurity.

Internal carotid artery webs (ICAWs) have been described as noninflammatory, nonatherosclerotic shelf-like projections of intimal fibrous tissue which may be the culprit for embolic stroke of unknown origin. Carotid webs are an atypical form of intimal fibromuscular dysplasia (FMD) and internal carotid webs create areas of stagnation and recirculation distal to the web that favor thrombus formation and embolism. Symptomatic carotid webs are conventionally associated with young women presenting with few vascular risk factors and < 50% stenosis in the affected ICA. ICAWs are being described more and more in the vascular literature, but the management of this pathology remains unclear. We describe a rare case of a 90-year-old male who presented with a significantly sclerosed symptomatic right ICAW without evidence of comorbid atherosclerotic disease. The clinical management, intraoperative findings, and postoperative course are described herein. At the age of 90, this patient is the oldest case of symptomatic carotid web recorded in the literature. Successful management with a carotid endarterectomy is an appropriate strategy for treatment even in a nonagenarian. We would favor carotid endarterectomy over carotid artery stenting given the circumferential, fibrotic nature of these lesions.

Primary effusion lymphoma (PEL) is a rare, aggressive large B-cell lymphoma variant that is invariably associated with human herpesvirus 8 (HHV8), predominantly in human immunodeficiency virus (HIV)-infected patients, and its oncogenicity is often augmented by coinfection with Epstein-Barr virus. It typically presents as a serous effusion in body cavities without detectable solid tumors. The extracavitary variant of PEL may represent a diagnostic challenge. A 37-year-old man with HIV/acquired immunodeficiency syndrome (AIDS) was transferred to our hospital for evaluation of a mediastinal mass with associated clinically diagnosed hemophagocytic lymphohistiocytosis (HLH), fever, pancytopenia, hepatosplenomegaly, retroperitoneal lymphadenopathy, and wasting syndrome. Contrast-enhanced computed tomography showed a large soft tissue mass extending along the middle/posterior mediastinum into the left hilum and a large left pleural effusion. Endoscopic fine-needle biopsy of the lesion showed sheets of large pleomorphic lymphoma cells with prominent nucleoli and abundant cytoplasm. These cells were also seen on the cytospin smear of pleural fluid. Immunohistochemical stains showed lymphoma cells positive for CD3 (small subset), CD45, CD138, MUM-1, and HHV8 and negative for CD5, CD20, CD30, ALK1, AE1/3, and PAX-5. The lymphoma cells were also positive for Epstein-Barr virus-encoded RNA (EBER) (in situ hybridization). Solid masses in extracavitary PEL have been shown to involve lymph nodes and/or solid organs such as the gastrointestinal tract, lung, liver, spleen, and skin, with a similar phenotype as classic PEL except that they may express B-cell markers with lower expression of CD45 and/or aberrant coexpression of T-cell antigens. This case illustrates the unusual manifestation of PEL as a mediastinal mass with associated HLH.

Extranodal natural killer/T-cell lymphoma (ENKTL) is a rare and aggressive subtype of non-Hodgkin lymphoma, typically involving the nasal cavity. However, it can occasionally present in extranodal sites without nasal involvement, complicating diagnosis. This report describes a 78-year-old man who presented with progressive double vision and visual loss in the right eye over 3 weeks. Examination revealed partial oculomotor nerve palsy with pupillary involvement and signs of optic neuropathy, leading to a diagnosis of orbital apex syndrome. The nasopharyngeal evaluation showed no nasal lesions. Magnetic resonance imaging (MRI) identified diffuse enhancement of the extraocular muscles, intraorbital soft tissues, and optic nerve sheath in the right orbit. A right medial rectus muscle biopsy confirmed extranodal NK/T-cell lymphoma through immunohistochemical analysis. Chemotherapy was initiated, significantly improving both ophthalmoplegia and visual acuity. This case underscores the importance of comprehensive neuro-ophthalmic evaluation and biopsy for diagnosing ENKTL, especially in atypical presentations without nasal involvement. Early detection and treatment are critical for achieving favorable outcomes in this rare disease.

Given the association of lactic acidosis with inadequate tissue perfusion and poor clinical outcomes, an aggressive investigation and alterations in supportive and therapeutic care are needed for patients with lactic acidosis. However, other etiologies of lactic acidosis may exist, including disorders of excessive production or inadequate clearance. Several of these fall under the category known as "type B" lactic acidosis. We present a 17-year-old female with acute lymphoblastic leukemia who was admitted to the pediatric intensive care unit (PICU) for evaluation of lactic acidosis and severe hyponatremia. Subsequent evaluation argued against pathologic etiologies of lactic acidosis, leading to the conclusion that the high lactic acid laboratory value was caused by hypertriglyceridemia.

Pain management following posterior spinal fusion (PSF) in pediatric patients can present significant challenges for clinicians. Opioids continue as the primary modality for managing postoperative pain in these patients, despite well-known concerns regarding their adverse effect profile such as the risk of dependence or abuse. Therefore, there has been increased focus on multimodal analgesic approaches that incorporate non-opioid medications, non-pharmacologic techniques, and regional anesthesia. Commonly used non-opioid adjuncts include non-steroidal anti-inflammatory drugs, acetaminophen, gabapentin, ketamine, and intravenous lidocaine. Because of ongoing controversy and insufficient evidence regarding different analgesic strategies, no definitive optimum regimen has been established. We present a 14-year-old adolescent female patient with neuromuscular scoliosis scheduled for PSF. The anesthetic plan involved a unique combination of total intravenous anesthesia (TIVA) and the placement of dual epidural catheters by the orthopedic surgeon for postoperative analgesia. The basic tenets of perioperative pain management for PSF are presented, perioperative concerns are discussed, and previous reports of regional anesthesia as an adjunct to general anesthesia in pediatric patients with scoliosis are reviewed.

Intramyocardial dissecting hematoma (IDH) is a rare complication that may emerge from myocardial infarction, thoracic injury, or percutaneous intervention. In the past, IDH was diagnosed through surgical intervention or postmortem autopsy. We present a case of a 70-year-old male with comorbidities who admitted to the intensive care unit after suffering out of hospital pulseless electrical activity cardiac arrest and obtained return of spontaneous circulation after chest compressions. Initial electrocardiogram (ECG) showed ST elevation in the anterolateral leads. Repeated ECG a few minutes later showed junctional rhythm bradycardia with a rate of 27 and serial changes of an anterolateral infarct were present and placed on percutaneous pacing with vasopressors. The troponin I peaked at 1.880. Transthoracic echocardiography (TTE) portrayed a hyperechoic mobile filamentous structure near the cardiac apex, which was thought to be a false left ventricular (LV) tendon initially. A repeat TTE with the use of an ultrasound enhancing agent (sulfur hexafluoride) revealed an apical neocavity with no contrast filling, suggestive of a large apical IDH within the LV. The patient expired because of cardiac arrest secondary to cardiogenic shock refractory to pressor support, with no autopsy performed. This case highlights an uncommon and timelier diagnostic modality of IDH in deference of more costly and prolonged imaging studies.

Conjunctival malignant melanoma is extremely rare, with no standard of care established at moment. Here we report a 65-year-old woman, as a hepatitis B virus (HBV) carrier, who presented concurrently a liver mass and lower bulbar conjunctival pigmented lesions in the right eye. Needle liver biopsy and excisional conjunctival biopsy showed hepatocellular carcinoma and conjunctival malignant melanoma in situ, respectively. The priority was given to segmental liver resection for hepatocellular carcinoma after transcatheter arterial chemoembolization. In 1 year, she underwent second and third resection of bulbar conjunctival pigmented lesions, and the pathological examinations constantly showed melanoma in situ. In the course, she showed gradual widening of pigmented lesions to upper bulbar conjunctiva and lower palpebral conjunctiva and lower eyelid. About 2.5 years from the initial visit, the lower eyelid lesion was resected for a genomic DNA-based test of BRAF mutations which turned out to be absent, and then, she began to have intravenous anti-programmed cell death-1 (PD-1), nivolumab every 3 or 4 weeks. She developed iritis in the right eye with conjunctival melanoma as an immune-related adverse event, 3 months after the beginning of nivolumab, and so she used daily topical 0.1% betamethasone eye drops to control the intraocular inflammation. She showed no metastasis in 6 years of follow-up, but later in the course, 5 years from the initial visit, she developed abruptly a non-pigmented nodular lesion on the temporal side of the bulbar conjunctiva along the corneal limbus, accompanied by two pigmented nodular lesions in the upper and lower eyelids in a few months. She thus, underwent proton beam therapy toward the conjunctival melanoma and achieved the successful local control. Proton beam therapy is a treatment option in place of orbital exenteration, and multidisciplinary team collaboration is desirable to achieve better cosmetic and functional outcomes in conjunctival malignant melanoma.