Journal of Medical Cases最新文献

Moyamoya disease (MMD) was first used as a descriptor for a steno-occlusive process that affects primarily the internal carotid arteries (ICA) in a bilateral fashion in 1969. Characterized by recurrent ischemic events in the developing brains of young patients, the process is one that often decimates the quality of life of affected individuals. The vascular changes in MMD have been demonstrated to occur in an extracranial manner, thus it is logical to assume that the same steno-occlusive mechanism could induce dysfunction and ischemia in other organ systems. Our case presents a patient with MMD with cardiac manifestations that we suspect may be related to extracranial manifestations of MMD.

Intracranial hemorrhage, including subarachnoid hemorrhage (SAH), is associated with many cardiac effects, including cardiac rhythm abnormalities, ischemic electrocardiographic (ECG) changes, elevated cardiac troponin levels, and regional wall motion abnormalities on echocardiogram. About 40% of patients with SAH demonstrate increased serum markers for myocardial necrosis. Approximately 10% of patients with SAH demonstrate left ventricular (LV) wall motion abnormalities; a subset of these patients will have irreversible myocardial damage, but most regain LV function in several weeks. Cardiac effects of SAH are thought to be a result of an imbalance of the autonomic nervous system with resultant increased catecholamine effect on the myocardial cells rather than due to preexisting coronary artery disease. These cardiovascular complications carry a prognostic significance in patients with SAH and can also be misdiagnosed as primary cardiac problems and delay the diagnosis of SAH. Herein, we present a case of a 68-year-old female who presented to the emergency department with acute onset of upper back and neck pain. She was initially misdiagnosed with myocardial infarction in view of the ischemic changes in the ECG and elevated cardiac troponins. She was started on antiplatelets and anticoagulation but was later found to have a negative coronary angiography and was diagnosed with SAH via a computed tomography (CT) scan. Intracranial hemorrhage can be associated with elevated cardiac enzymes and ECG changes and can sometimes masquerade as an acute coronary syndrome (ACS). A careful history and examination and a high index of clinical suspicion are pivotal in such cases since early diagnosis significantly impacts prognosis and prevents the inadvertent use of antiplatelets and anticoagulation, which can be detrimental if used in such cases.

Disseminated coccidioidomycosis is a fungal disease endemic to the Southwest United States as well as South and Central America. This dimorphic fungus typically manifests as pulmonary infection; however, there are very rare instances of extrapulmonary disseminated disease especially in immunocompromised hosts. Here, we present a 46-year-old immunocompromised patient with a recent diagnosis of pulmonary coccidioidomycosis that initially presented with acute respiratory failure and was found to have coccidioidomycosis meningitis. This case highlights that despite early and adequate treatment of a known pulmonary coccidioidomycosis infection, dissemination of the disease can still ensue and should be considered in cases of acute encephalopathy.

We report a case of a 65-year-old woman who sustained a left neck of femur (NOF) fracture following low-energy trauma. Computed tomography (CT) scan for the neck, chest, abdomen and pelvis was normal apart from enlargement of the right lobe of the thyroid. Interestingly, thyroid function was normal. While waiting for the result of thyroid cytology and bone histology, the patient recovered well from the operation and started to engage well with physiotherapy. The result of the investigation showed presence of diffuse large B-cell lymphoma in the left NOF and right lobe of the thyroid. As the presence of lymphoma only in these two organs is extremely rare, it is not yet clear what is underlying mechanism for such association. Therefore, such observations may raise many future research questions as detailed in the discussion of this case report. This case also illustrates the importance of a multidisciplinary approach in identifying, evaluating, and treating unique and complex presentations of NOF fracture, with a focus on the patient's history, clinical examination and applying diagnostic tools.

Percutaneous endoscopic gastrostomy (PEG) is a relatively safe procedure that represents an important supportive adjunctive component for patients with primary head and neck squamous cell carcinoma (HNSCC). The HNSCC population is considered a high-risk group for developing critical nutritional deficiency due to a multitude of factors. Nevertheless, as the use of PEG in modern practice is gaining more popularity due to various indications, unusual complications have been increasingly reported. PEG site metastasis from primary HNSCC has emerged as a rare, yet serious oncological phenomenon that warrants careful consideration. The authors report an unusual case of squamous cell carcinoma (SCC) of the hypopharynx that metastasized to the gastric body mucosa through a PEG site. The metastatic SCC presented as massive gastrointestinal bleeding, and esophagogastroscopy revealed an ulcerated mass in the gastric body masquerading as a primary gastric adenocarcinoma. Histopathology and immunohistochemistry examination confirmed metastatic SCC which concurred with the patient's primary hypopharyngeal SCC. The review of the updated literature revealed that a total of 121 cases of this rare oncological entity have been reported to date. Physicians need to be vigilant of the symptoms of PEG site metastasis to accurately diagnose and manage the care of this rare occurrence as it is associated with poor prognosis.

Shock is the clinical presentation of circulatory failure with impaired perfusion that results in inadequate cellular oxygen utilization. Treatment requires properly identifying the type of shock that is impacting the patient (obstructive, distributive, cardiogenic, and/or hypovolemic). Complex cases may involve numerous contributors to each type of shock and/or multiple types of shock which can present interesting diagnostic and management challenges to the clinician. In this case report, we present a 54-year-old male with a remote history of a right lung pneumonectomy presenting with multifactorial shock including cardiac tamponade, with initial compression of the expanding pericardial effusion by the postoperative fluid accumulation within the right hemithorax. While in the emergency department, the patient gradually became hypotensive with worsening tachycardia and dyspnea. A bedside echocardiogram revealed an increase in size of the pericardial effusion. An emergent ultrasound-guided pericardial drain was inserted with gradual improvement of his hemodynamics followed by placement of thoracostomy tube. This unique case highlights the importance of utilizing point-of-care ultrasound along with emergent intervention in critical resuscitation.

Statin-induced immune-mediated necrotizing myopathy (IMNM) is a subtype of IMNM linked to exposure to statins and is characterized by positive anti-hydroxymethylglutaryl (HMG) coenzyme A reductase (HMGCR) antibodies. Although rare, this entity has become increasingly recognized as a cause of proximal muscle weakness, especially with the widespread use of statin therapy. Unlike typical statin-associated muscle symptoms, IMNM myopathy often causes severe muscle injury, and muscle weakness persists or sometimes worsens following the withdrawal of statin therapy. Medical practitioners need to keep a high index of clinical suspicion for statin-induced IMNM in patients taking statins who present with muscle weakness. The disease can be debilitating, and treatment strategies are not well established despite the advances that have been made in the diagnosis. Here we present the clinical characteristics and disease course of two cases of statin-induced IMNM. Both patients presented with progressive proximal muscle weakness and myalgias while on long-term statin therapy without significant improvement in their symptoms following the withdrawal of statin therapy. IMNM was suspected, and both patients were found to have high titers of anti-HMG coenzyme A reductase antibodies and demonstrated microscopic features consistent with a diagnosis of IMNM on muscle biopsy. The patients experienced significant disability due to muscle weakness and required a protracted course of escalated immunosuppressive therapy. Although rare, IMNM should be suspected in patients taking statins who present with muscle weakness that fails to improve or worsens when statins were stopped. Early diagnosis and institution of immunosuppressive therapy are important to prevent the progression of the disease.

Toxoplasmosis is caused by the protozoan parasite Toxoplasma gondii (T. gondii), which is one of the most widespread zoonotic pathogens known today. It is a global health hazard as they infect 30-50% of the world's human population. Acute toxoplasmosis is usually asymptomatic and self-limited in immunocompetent people, recovering without treatment and do not require specific therapy. Therefore, rare complications are associated with infection in the individuals with normal immune systems. However, we present a rare case of an immunocompetent man with acute T. gondii infection confirmed by serology, subsequently presented with two life-threatening organ dysfunctions: severe renal and pulmonary involvement, requiring hospitalization and anti-parasitic treatment.

Di^a is a low-frequency member of the Diego blood group system, which is comprised of 23 antigens. The Diego blood group antigens are found on the erythroid membrane glycoprotein band 3, the red cell anion exchanger (AE1). The behavior of anti-Di^a in pregnancy can only be surmised by rare, published case reports. This is a case report of severe hemolytic disease of the newborn due to a high-titer maternal anti-Di^a immune response. The neonate's mother was monitored throughout pregnancy with Di^a antibody titers. In the third trimester, her antibody titer abruptly rose to 32. Her fetus was emergently delivered and was found to be jaundiced at birth with a hemoglobin/hematocrit of 5 g/dL/15.9% and a neonatal bilirubin of 14.6 mg/dL. With simple transfusion, intensive phototherapy, and two doses of intravenous immunoglobulin, the neonate's condition normalized quickly. He was discharged from the hospital after 8 days in excellent condition. Anti-Di^a is uncommonly encountered in both transfusion services and obstetric practices. Although very rare, anti-Di^a can be associated with cases of severe hemolytic disease in newborns.

Coronary artery aneurysms (CAAs) are found in a small percentage of coronary angiograms, with left main coronary artery (LMCA) aneurysms being the least common. We present a 63-year-old male patient with a history of chest pain and an abnormal nuclear stress test. Cardiac catheterization showed a large LMCA aneurysm with unusual quadfurcation left main (LM) anatomy, but otherwise showed no evidence of obstructive coronary artery disease. The patient remained clinically stable, and a repeat cardiac catheterization 2 years later showed unchanged coronary anatomy. Further medical management with close observation was elected. This case illustrates that in select cases, large LMCA aneurysms can be successfully managed medically without surgical or percutaneous interventions. To our knowledge, this is the first report of LMCA aneurysm with quadfurcation anatomy. In addition to the case description, a review of the literature is provided.