Journal of investigative medicine high impact case reports最新文献

An 18-year-old teenager with significant atherosclerotic cardiovascular disease (ASCVD) risk factors developed acute chest pain. His electrocardiogram showed inferior ST-segment elevations. Emergent coronary angiogram revealed complete thrombotic occlusion of the right coronary artery. He underwent stenting of the culprit lesion with complete clinical recovery and resolution of his electrocardiographic abnormalities secondary to myocardial infarction.

We describe a 30-year-old Caribbean-Black woman with a clinical presentation suggestive of a transient ischemic attack (TIA) with no conventional cerebrovascular risk factors, albeit with a newly diagnosed quadricuspid aortic valve (QAV) with moderate aortic regurgitation (AR). Although QAV is a recognized congenital cardiac defect, its association with TIA remains elusive. This case highlights the importance of considering potential atypical etiologies, such as QAV, in the evaluation and management of young patients presenting with cerebrovascular events.

Rafiq syndrome, MAN1B1-CDG, was described in 2010 and associated with genetic mutation in MAN1B1 gene in 2011. The disorder follows an autosomal recessive pattern of inheritance and typically presents with specific facial dysmorphism, intellectual disability, developmental delay, obesity, and hypotonia. The syndrome belongs to a group of metabolic disorders called Congenital Glycosylation Disorders (CGD). In this study, we discuss a 5-year-old male from Palestine who presented with developmental delay, hypotonia, characteristic facial dysmorphisms, impulsive behaviors, inability to speak, cryptorchidism, and other manifestations. This constellation of manifestations raised suspicion of a genetic disorder, prompting whole exome sequencing (WES), which revealed the presence of a homozygous likely pathogenic variant in the MAN1B1 gene (c.1976T>G)(p.Phe659Cys). We also reviewed all previously documented cases and compared the clinical features among them. After reviewing the family pedigree and its suspected cases, we found that the 2 most frequent features among them are intellectual disability and facial dysmorphism, whereas the least frequent one is truncal obesity. We discussed the importance of providing genetic counseling to parents of children with this and other rare, autosomal recessive disorders to prevent new cases from appearing.

Thrombotic microangiopathy (TMA) is a severe condition characterized by microangiopathic hemolytic anemia, thrombocytopenia, and end-organ damage, often involving the kidneys. Complement-mediated hemolytic uremic syndrome (cHUS), a rare form of TMA, arises from dysregulated alternative complement pathway activation, frequently due to genetic mutations. We report the case of a 23-year-old male presenting with TMA secondary to a heterozygous mutation in the membrane cofactor protein (MCP/CD46) gene. The patient exhibited severe renal and cardiovascular complications, including acute kidney injury requiring hemodialysis, uremic pericarditis, and persistent anemia. Diagnostic evaluation confirmed complement dysregulation, and management with eculizumab, plasmapheresis, and hemodialysis was initiated. Renal biopsy revealed classic TMA features, and genetic testing identified the MCP mutation, underscoring the importance of genetic predispositions in guiding diagnosis and therapy. This case emphasizes the critical role of genetic testing in TMA evaluation and highlights the potential for improved outcomes through targeted complement inhibition and individualized care strategies.

Oxyntic gland adenomas (OGAs) are benign gastric neoplasms composed of gland-forming epithelial cells with predominantly chief cell differentiation resembling oxyntic glands confined to the mucosa. If the tumor has submucosal invasion, it should be classified as gastric adenocarcinoma of fundic gland type. The OGAs can pose a diagnostic challenge, as they can resemble aggressive gastric neoplasms. There are no current guidelines on the management of OGA. Due to the relatively small size and low malignant potential, these lesions are typically managed endoscopically. In this case, we are reporting a 22-year-old woman who was diagnosed with OGA during evaluation of iron deficiency anemia and underwent successful endoscopic resection.

Lymphocytic esophagitis (LE) is an uncommon subtype of esophagitis defined by persistent esophageal inflammation characterized by a high count of intraepithelial lymphocytes with scarce granulocytes. Although LE can present with atypical features such as chest pain, its clinical presentation can mimic that of gastroesophageal reflux disease or eosinophilic esophagitis, highlighting the importance of biopsy in diagnosing LE. Studies are still limited in understanding the pathophysiology behind this disease warranting further research. A 47-year-old female patient sought medical care with a chief complaint of recurrent substernal chest pain for the past year. An esophagogastroduodenoscopy was performed and showed patchy linear esophageal erosions and mucosal edema in the middle third of the esophagus with mild erythema. Biopsies revealed intraepithelial lymphocytosis with more than 40 lymphocytes per high-power field, corroborating a diagnosis of LE. Patient reported improvement after receiving high dose of proton pump inhibitor (PPI) on her first follow-up, advised to follow a low-acid diet and an annual endoscopy to monitor her response to treatment. Lymphocytic esophagitis often presents with symptoms that overlap with other esophageal diseases explaining the possible errors in underdiagnosing it as reason behind non-cardiac chest pain. This case plays an instrumental role in changing the way physicians translate unexplained chest pain, adding LE to their list of differential diagnosis as prompt detection slows us to start management with PPIs quicker and lessen the burden of symptoms on the patient. Standardized treatment approaches and further studies are required to clarify the connection between LE and non-cardiac chest discomfort.

We present a case of a 42-year-old male with sarcoidosis manifesting as endobronchial mass-like lesions, a rare and atypical presentation of the disease. Sarcoidosis typically involves the respiratory system, but its occurrence as endobronchial polyps mimicking malignancy is uncommon. The diagnosis was confirmed through bronchoscopy and biopsy, revealing non-caseating granulomas. Treatment with corticosteroids led to significant clinical improvement. This case underscores the importance of considering sarcoidosis in the differential diagnosis of endobronchial masses and the role of biopsy in confirming the diagnosis.

Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitides are a group of immune-mediated diseases characterized by inflammation of small vessels, leading to endothelial injury with subsequent tissue damage. Current guidelines recommend induction therapy with rituximab over cyclophosphamide for severe disease activity. In this case series-based review, the authors discuss 3 cases of granulomatosis with polyangiitis (GPA) with proteinase-3 (PR3) disease that deteriorated following induction therapy with rituximab combined with mycophenolate mofetil and high-dose steroids. All 3 patients subsequently required salvage therapy with cyclophosphamide. Our experience suggests there is a temporal window where induction with rituximab is not fully effective, and deterioration or death can ensue. Expert recommendations do not offer a preferential protocol for induction with either rituximab or cyclophosphamide, with some even using a combination of both.

Anti-tubular basement membrane (anti-TBM) antibody nephritis is a rare type of tubulointerstitial nephritis associated with progressive decline in kidney function. It is characterized histopathologically by tubular atrophy and dilation, interstitial fibrosis, lymphocyte and macrophage-predominant cellular infiltration, and linear deposition of IgG and complement along the tubular basement membrane. We herein present a case of a 69-year-old male who was recently diagnosed with chronic lymphocytic leukemia (CLL) and was referred for evaluation of kidney failure, ultimately diagnosed as anti-TBM antibody nephritis progressing into end-stage kidney disease (ESKD). This case report highlights the management challenges of anti-TBM antibody nephritis as a rare kidney disorder.

Cocaine is an indirect-acting sympathomimetic drug that inhibits norepinephrine and dopamine reuptake in the adrenergic presynaptic cleft. Cocaine use has been associated with strokes, angina, arrhythmias, and agitation. Data on gastrointestinal complications such as mesenteric ischemia, bowel necrosis, ulceration, and perforation are scarce. Here, we present a rare case of cocaine-induced esophageal, gastric, and small bowel necrosis that contributes to the limited literature on this subject. Diagnosis of cocaine-induced gastrointestinal complications involves a combination of imaging studies, laboratory assessments, and histopathological examinations. Timely surgical resection, supported by intravenous fluids, antibiotics, and pain management, is the mainstay of treatment. The prognosis varies but is significantly influenced by the promptness and effectiveness of the intervention, underscoring the importance of vigilant clinical care in such cases.