Journal of investigative medicine high impact case reports最新文献

Metastatic melanoma to the breast is a rare phenomenon often mistaken for primary breast cancer due to overlapping clinical and imaging characteristics. We report the case of a 51-year-old woman with a history of melanoma resected 7 years earlier, presenting with severe left hip pain and a 6-month history of a right breast lump. Imaging revealed extensive metastatic disease, including lesions in the femoral head, breast, lung, adrenal gland, and thoracic spine. Pathologic examination of the hip lesion obtained during total arthroplasty, as well as biopsies of the breast and lung, confirmed metastatic melanoma. Histology revealed pleomorphic tumor cells with necrosis, while immunohistochemical analysis demonstrated SOX10 and S100 positivity, confirming the diagnosis. Genetic testing identified microsatellite stability with a tumor mutational burden of 16 mutations per mega base. This case shows the importance of thorough cancer histories and the use of immunohistochemical staining to distinguish metastatic melanoma from primary breast malignancies. Despite timely diagnosis and intervention, the patient's condition deteriorated rapidly, reflecting the aggressive nature of metastatic melanoma. This case highlights the need for vigilance in patients with a history of melanoma presenting with new breast masses to ensure accurate diagnosis and appropriate management.

Immunotherapy-induced pseudomembranous colitis (PMC) is an uncommon but increasingly recognized adverse effect of immune checkpoint inhibitors, particularly in patients with advanced malignancies. We present a case of a 68-year-old male with gastric adenocarcinoma undergoing treatment with immunotherapy and chemotherapy, who developed symptoms of PMC. Workup for Clostridium difficile and other common etiologies was negative. Colonoscopy revealed severe mucosal congestion and yellowish-green exudates, consistent with PMC. Based on the biopsy results and clinical presentation, after excluding common etiologies, immunotherapy-induced PMC was suspected. The patient responded to steroid therapy, with gradual improvement and a tapering regimen upon discharge. This case underscores the diagnostic challenges in identifying the etiology of PMC, particularly when it presents with diffuse involvement of the colon, which is an uncommon presentation for immunotherapy-related colitis. The overlap in clinical, endoscopic, and histopathological findings with other forms of colitis, such as Clostridium difficile infection (CDI) and inflammatory bowel disease, highlights the need for heightened awareness among clinicians. This case highlights the diagnostic challenges in recognizing immunotherapy-induced PMC, particularly with atypical, diffuse colonic involvement. The overlapping features with other colitis make timely diagnosis difficult. Further research is needed to refine diagnostic criteria and management strategies for immunotherapy induced colitis (IMC).

Systemic sclerosis (SSc) is a rare autoimmune disorder that leads to progressive fibrosis and vascular dysfunction, frequently affecting the gastrointestinal tract with around 90% of patients experiencing gastrointestinal complications, with severe manifestations such as gastric antral vascular ectasia and rectal telangiectasia which lead to chronic bleeding and iron-deficiency anemia. This review and case report explore the pathophysiology of GI involvement in SSc, emphasizing fibrosis, microvascular damage, and dysmotility. It also highlights treatment options, including endoscopic interventions like argon plasma coagulation and pharmacological therapies.

May-Thurner syndrome (MTS) is a developmental anatomical variant in which the right common iliac artery compresses the left common iliac vein against the underlying lumbar vertebral body. This compression leads to endothelial injury, venous stasis, and progressive luminal narrowing, significantly increasing the risk of left-sided iliofemoral deep vein thrombosis (DVT). Combined oral contraceptives containing ethinyl estradiol are known to increase the risk of DVT, particularly during the initial months of use or during dose changes, with thrombotic risk persisting for up to 10 to 12 weeks after discontinuation. We present the case of a 34-year-old previously healthy female with no significant past medical history who presented with left leg swelling and lower abdominal discomfort. She had intermittently used a combined estrogen-containing oral contraceptive pill, discontinued 2 weeks prior to presentation. Imaging confirmed extensive DVT, and computed tomography venography revealed classic features of MTS, with compression of the left common iliac vein by the right common iliac artery. This case underscores the importance of evaluating structural etiologies in young patients and emphasizes the synergistic risk between hormonal and anatomical factors in precipitating a DVT. Timely diagnosis and targeted management were essential to achieving a favorable outcome.

Testicular tumors are rare in children, accounting for only 1% to 2% of pediatric solid tumors. Mature teratomas (MTs) are a benign subtype that typically occur in prepubertal boys and may occasionally mimic hydroceles. We report a case of a 3-year-old boy with left testicular swelling initially suspected to be a hydrocele. Over several months, the swelling evolved into a firm, painless mass. Ultrasound and MRI revealed a multiloculated cystic lesion with internal vascularity replacing most of the testicular parenchyma. Serum tumor markers, including alpha-fetoprotein, β-human chorionic gonadotropin, and lactate dehydrogenase, were within normal limits. The patient underwent left inguinal orchiectomy, and histopathology confirmed a MT without immature or malignant elements. Postoperative recovery was uneventful. He underwent routine follow-up every 3 months for 2 years, including physical examinations, scrotal ultrasounds, and serum tumor marker assessments. Findings from the first and second follow-ups were normal, with no evidence of recurrence to date. This case underscores the importance of early imaging and tumor marker evaluation in children presenting with persistent scrotal swelling. A systematic diagnostic approach facilitates accurate diagnosis, and orchiectomy remains the standard treatment for prepubertal MTs.

An antineutrophil cytoplasmic antibody-associated small artery vasculitis that primarily affects the skin, lungs, and heart is called eosinophilic granulomatosis with polyangiitis (EGPA). It typically begins with initial respiratory symptoms like asthma and chronic sinusitis, and later progresses to systemic vasculitic issues that are linked to increased levels of eosinophils in the blood and tissues. While both central nervous system (CNS) and peripheral nervous systems can be affected, CNS involvement is rare. Nerve damage from vasculitis in EGPA usually appears as mononeuritis multiplex and is infrequently seen as polyradiculopathy. Here, we discuss an unusual case where a patient with EGPA presented with worsening asthma, a skin rash, and a sudden quadriplegia due to involvement of the cervical spine. After all relevant investigations and findings, the patient was treated with IV rituximab along with IV corticosteroids and oral azathioprine which improved the condition including the paralysis.

22q11.2 deletion syndrome is a multifaceted disorder most characterized by congenital cardiac anomalies, immunodeficiency, and psychiatric conditions. Endocrine abnormalities such as hypoparathyroidism and growth hormone deficiency are well documented, but hypogonadism remains rarely reported in this patient population. Only 1 case of hypogonadism has been reported in a patient with multiple other comorbidities which may have contributed to the condition. The relationship between 22q11.2 deletion syndrome and hypogonadism is not well understood. We report 2 male patients with 22q11.2 deletion syndrome and low testosterone levels. The first patient was a 25-year-old male with Tetralogy of Fallot and hypoparathyroidism who presented with balanitis and was found to have low testosterone. Evaluation for causes, including pituitary imaging and hormone panels, was unremarkable. The second patient was a 20-year-old male with a history of growth hormone deficiency and hypogonadism, scoliosis, and neurodevelopmental disorders who had low testosterone levels. No identifiable causes were found. Mechanisms include disruptions in the hypothalamic-pituitary-gonadal axis during embryonic development or testicular dysfunction. Impaired function of synaptosomal-associated protein 29, a gene located within the 22q11.2 region, may contribute to testosterone deficiency. The rarity of reported hypogonadism in 22q11.2 deletion syndrome suggests that it may be underdiagnosed due to a lack of routine screening protocols. Further studies evaluating testosterone, LH, and FSH levels in this population are warranted to establish prevalence and determine whether routine endocrine assessment should be incorporated into clinical guidelines.

Anabolic-androgenic steroid (AAS) use is prevalent among noncompetitive bodybuilders, with potential severe vascular complications. While thrombotic events have been reported with AAS use, bilateral acute limb ischemia (ALI) requiring amputation is rare. We present a case of bilateral limb ischemia, in a young adult who use AAS. Our patient is a 40-year-old male, a bodybuilder with a 4-year history of cyclic AAS use, who presented with bilateral leg pain and burning sensations from the knees to the feet. CT angiography revealed multiple embolic occlusions in both lower extremities, with no other identifiable risk factors for ALI. Management included intravenous heparin therapy and 3 attempts at right leg revascularization through percutaneous angioplasty, mechanical thrombectomy, and pharmacologic thrombolysis. After failed revascularization and subsequent rhabdomyolysis, right below-knee amputation was required. Amputation was successful, and the patient underwent rehabilitation with no complications. This case highlights AAS use as a potential cause of severe vascular complications in young patients. When traditional risk factors for ALI are absent, clinicians should screen for the use of AAS. Early recognition and intervention may prevent limb loss in this population.

Methimazole is commonly prescribed for patients with hyperthyroidism. It typically exhibits a well-tolerated profile, with common side effects including gastrointestinal disorders and rash. However, more serious rare yet adverse reactions, notably agranulocytosis and hepatotoxicity have been documented in literature. Here we present a case of a 27-year-old female, recently diagnosed with Graves' disease, who was prescribed methimazole and developed severe pruritus with cholestatic jaundice 13 days later. Concomitant causes of liver disease were ruled out. The treatment was discontinued, and a switch to corticosteroid therapy with a regimen of radioactive iodine sessions was initiated. The patient's condition showed a resolution of pruritus and jaundice, a disappearance of cytolysis with an aggravation of cholestasis followed by a gradual decrease, leading to the liver function normalization after 2 years. Methimazole-induced cholestatic jaundice is a rare yet severe adverse effect. Patients should be aware of this complication and advised to immediately stop taking the treatment when suggestive symptoms (pruritus, jaundice, dark urine, light-colored stool) occur.

Cystic fibrosis (CF) is a genetic disorder typically diagnosed in early childhood, caused by mutations in the cystic fibrosis transmembrane conductance regulator gene, leading to thick mucus accumulation in the lungs, pancreas, and other organs. While most diagnoses occur in childhood, a growing number of cases are being identified in adulthood, presenting unique challenges for recognition and management. This case highlights a 37-year-old patient diagnosed with CF after presenting with chronic respiratory symptoms, and weight loss. Late diagnosis of CF remains rare but can delay appropriate treatment, potentially impacting long-term outcomes.