European journal of case reports in internal medicine最新文献

Introduction: Constrictive pericarditis is a rare and serious complication of pericardial diseases, typically associated with inflammatory or infectious causes. Cryptococcus neoformans involvement is exceptional outside the context of HIV but may occur in immunosuppressed patients.

Case description: We present a 72-year-old woman with rheumatoid arthritis on chronic corticosteroids who developed progressive dyspnoea, ascites and peripheral oedema. Imaging suggested constrictive pericarditis and pericardiectomy revealed C. neoformans infection. She received antifungal therapy (liposomal amphotericin B plus flucytosine, followed by fluconazole) with a favourable 12-month outcome.

Discussion: This case illustrates the importance of considering fungal aetiologies in immunosuppressed patients with pericardial disease. Pericardiectomy was both diagnostic and therapeutic. Antifungal therapy according to international guidelines ensured clinical success.

Conclusion: Cryptococcal pericarditis, though rare, should be considered in immunosuppressed patients with pericardial effusion or thickening. A combined approach with surgery and antifungals is essential.

Learning points: Cryptococcal pericarditis is rare but should be suspected in immunosuppressed patients with pericardial effusion or thickening.Pericardiectomy is crucial as both a diagnostic and therapeutic intervention in constrictive pericarditis.Sequential antifungal treatment, in accordance with international guidelines, leads to favourable outcomes.

Background: Rhabdomyolysis (RM) is a multifactorial syndrome characterised by skeletal muscle breakdown and release of intracellular components, notably myoglobin, into the circulation. Elevated myoglobin levels are a major contributor to acute kidney injury (AKI), yet conventional renal replacement therapies (RRT) are limited in their ability to clear myoglobin due to its molecular size.

Case description: We present a case of a woman who developed severe RM-induced AKI secondary to necrotising myopathy. Despite initial fluid and diuretic therapy, her condition progressed to oliguric AKI. She was admitted to intensive care unit and prolonged intermittent RRT was then initiated. Due to markedly elevated myoglobin levels, a haemoadsorption device (HA-380 hemoperfusion cartridge) was added to the RRT circuit, leading to significant laboratory and clinical improvement.

Discussion: Severe RM frequently leads to AKI due to myoglobin-induced tubular damage. While conventional RRT removes myoglobin poorly, haemoadsorption using the HA-380 cartridge effectively reduced plasma myoglobin and creatine phosphokinase levels in our patient, supporting early implementation to enhance renal recovery. Evidence from case reports and recent studies suggests safety and efficacy, but clinical outcomes remain incompletely defined, and optimal therapy timing, thresholds and duration require further investigation.

Conclusion: This case highlights the potential utility of extracorporeal adsorption therapy as an adjunct to RRT for effective myoglobin removal in severe RM-induced AKI. Early implementation of this strategy may enhance renal recovery and improve outcomes, though clinical evidence remains limited.

Learning points: Rhabdomyolysis is characterised by muscle breakdown with release of creatine kinase and myoglobin into the bloodstream. Elevated myoglobin levels are a major contributor to acute kidney injury and potentially permanent kidney damage.Conventional renal replacement therapies alone have limited the ability to remove myoglobin due to its molecular size. Timely haemoadsorption may offer a practical solution, enhancing myoglobin clearance and improving outcomes.Prospective studies are needed to establish the optimal use and efficacy of haemoadsorption in rhabdomyolysis-induced acute kidney injury.

Giant cell arteritis (GCA) is a chronic large-vessel vasculitis that may present with systemic, neurological or ophthalmological manifestations. Lingual and scalp ischaemia are rare but can have severe potential complications that pose a diagnostic challenge and require immediate treatment to prevent irreversible outcomes. We report the case of an 87-year-old woman who initially presented with holocranial headaches and tongue pain with partially detachable whitish plaques. She was diagnosed with GCA based on clinical features, elevated inflammatory markers and ultrasonographic findings of thickened temporal arteries. High-dose corticosteroid therapy was promptly initiated, leading to marked improvement of the reported symptoms. Nevertheless, on day 14 of hospitalisation, she developed septic shock from an abdominal source and subsequently died. This case reports an atypical presentation of GCA - lingual and scalp ischaemia - emphasising the need to maintain a high index of suspicion even before these non-classical manifestations. A holistic clinical approach is essential to identify the various possible manifestations of this complex disease. Although tongue and/or scalp necrosis are rare complications, treatment remains aligned with current GCA guidelines. Most patients respond to corticosteroid therapy, or tocilizumab in cases of steroid-refractory lingual necrosis; non-responders are typically associated with a poorer prognosis.

Learning points: This report highlights the critical importance of considering giant cell arteritis (GCA) in the differential diagnosis of lingual and scalp ischaemia, enabling the exclusion of more common causes and ensuring the early initiation of appropriate treatment.The case emphasises the value of a multidisciplinary approach and continuous clinical surveillance, reinforcing the central role of the internal medicine physician in recognising atypical manifestations and coordinating follow-up in complex cases of systemic vasculitis.The report provides practical guidance for the diagnosis and management of rare presentations of GCA, offering evidence-based tools to support clinical decision-making and prevent irreversible complications.

Vitiligo is a rare cutaneous adverse event associated with cyclin-dependent kinase 4/6 (CDK4/6) inhibitors. We report a 56-year-old woman with de novo metastatic HR⁺/HER2^- breast cancer who developed vitiligo several years into long-term ribociclib therapy. She was initially treated with palbociclib plus letrozole and later transitioned to a reduced dose of ribociclib due to cytopenias and coverage limitations. After 3 years on ribociclib, she developed asymptomatic hypopigmented patches on her hands and face. Dermatologic evaluation confirmed vitiligo. Treatment was conservative with topical corticosteroids, and ribociclib was continued without interruption. Her metastatic disease remained stable with durable oncologic control. This case highlights delayed-onset vitiligo as an uncommon immune-mediated toxicity during prolonged CDK4/6 inhibitor therapy and demonstrates that such lesions do not necessitate discontinuing effective cancer treatment.

Learning points: This case highlights that cutaneous autoimmune-like toxicities, while concerning in appearance, do not necessarily warrant discontinuation of an effective anticancer drug if they are mild.Oncologists and dermatologists should be aware of CDK4/6 inhibitor-associated vitiligo, even late in the treatment timeline, and approach it with a collaborative management strategy.Moving forward, further research into the immunological or apoptotic mechanisms of this toxicity may shed light on why it occurs and how best to treat it.

Background: The simultaneous positivity of hepatitis B surface antigen (HBsAg) and its corresponding antibody (anti-HBs) is a rare serological paradox in chronic hepatitis B. Its pathogenesis is not fully understood but may involve hepatitis B virus (HBV) S gene mutations leading to immune escape or complex host immune dysfunction. Recognizing this pattern is clinically important, as it may indicate advanced liver disease.

Case report: A 54-year-old man with no history of alcohol abuse or liver disease presented with persistent bloating and dyspepsia. Laboratory tests revealed concurrent positivity for HBsAg (1438.5 S/Co) and anti-HBs (136.6 mIU/ml), hepatitis B e antigen (HbeAg) positivity, and a high HBV deoxyribonucleic acid (DNA) viral load (4.3 ×10⁶ copies/ml). Transaminases were mildly elevated, platelet count was reduced, and liver elastography indicated cirrhosis (F4). The patient was diagnosed active chronic hepatitis B with concurrent HBsAg and anti-HBs positivity, complicated by compensated cirrhosis and started on tenofovir 300 mg daily. After 4 months of treatment, the patient showed clinical improvement, with marked reductions in liver enzyme levels and HBV DNA viral load.

Conclusion: The concurrent positivity of HBsAg and anti-HBs is a rare serological finding that may reflect a complex HBV infection with a higher risk of progressive liver disease. This case illustrates that this unusual serological pattern can be associated with a high viral load and cirrhosis, highlighting the need for close monitoring of liver function, HBV DNA levels, and antiviral treatment response.

Learning points: Rare serological finding involving concurrent HBsAg and anti-HBs positivity in chronic hepatitis B with cirrhosis.Pattern that may indicate immune escape and active viral replication requiring closer clinical attention.Close monitoring of liver function, hepatitis B virus deoxyribonucleic acid levels, and antiviral treatment response is essential in such cases.

Introduction: Fever is a common clinical manifestation often attributed to infection, which frequently leads to empirical antibiotic therapy. However, non-infectious causes of fever are easily overlooked. Among patients with gastrointestinal bleeding, a rare but under-recognised phenomenon known as absorption fever has been described. Increasing awareness of this condition is important to prevent unnecessary exposure to antibiotics.

Case description: A 61-year-old man presented with nausea, vomiting, epigastric pain and melaena. On admission, his temperature was 38°C. Laboratory tests revealed leucocytosis, anaemia and mildly elevated C-reactive protein levels. Computed tomography showed periduodenal fat stranding, and upper endoscopy demonstrated Los Angeles Grade D reflux oesophagitis along with multiple duodenal ulcers (Forrest IIa). Two sets of blood cultures were negative. An empirical single dose of cefmetazole was administered but discontinued on day 2 because no infectious source was identified. Supportive care, including transfusions, was provided. Despite persistent fever for four days, the patient's clinical condition remained stable. The fever resolved spontaneously without recurrence and repeat endoscopy on hospital day 12 confirmed mucosal healing. No evidence of infection was observed during hospitalisation.

Discussion: This case illustrates a transient, non-infectious fever associated with massive upper gastrointestinal bleeding, consistent with absorption fever. Clinicians should recognise this underappreciated condition when evaluating febrile patients with gastrointestinal bleeding after carefully excluding infectious or malignant causes such as infectious colitis, inflammatory bowel disease, diverticulitis, enteric fever or gastrointestinal cancer.

Conclusion: Recognising non-infectious fever can prevent unnecessary antibiotic use, reduce adverse drug effects and support antimicrobial stewardship.

Learning points: Fever in the setting of upper gastrointestinal bleeding may represent a non-infectious process, historically termed absorption fever, rather than an occult infection.Careful clinical, laboratory and imaging evaluation is crucial to distinguish non-infectious fever from infection and to guide appropriate management.Recognising absorption fever helps avoid unnecessary antibiotic use and supports antimicrobial stewardship, but only after serious infectious and inflammatory causes have been carefully excluded.

Background: Adult-onset Still's disease (AOSD) is a rare systemic autoinflammatory disorder and a diagnosis of exclusion. Kikuchi-Fujimoto disease (KFD) is a benign, usually self-limiting necrotizing histiocytic lymphadenitis. The clinical and histopathological overlap between the two can be diagnostically challenging.

Case report: A 24-year-old female presented with a 6-week history of quotidian fever, migratory polyarthralgia, a fleeting salmon-coloured rash, and cervical lymphadenopathy. Initial workup revealed pronounced leucocytosis, highly elevated C-reactive protein, and critically high serum ferritin (6,500 μg/l). An excisional lymph node biopsy, performed to exclude malignancy, demonstrated features consistent with KFD. Active hemophagocytic lymphohistiocytosis (HLH)/macrophage activation syndrome (MAS) was ruled out as the calculated H-score was low (5), indicating a low probability of HLH, and the patient did not have the cytopenias and organomegaly necessary for a diagnosis of HLH/MAS. The patient's presentation was ultimately confirmed as AOSD based on the Yamaguchi criteria.

Conclusion: This case illustrates a rare presentation where AOSD was masked by KFD-like lymphadenitis. Extreme hyperferritinaemia appears to serve as a vital, specific biomarker to establish the correct diagnosis of AOSD and ensure timely, life-saving immunomodulatory treatment. Also, prompt calculation of the H-score and the strict application of clinical and laboratory criteria are critical steps when managing patients with extreme hyperferritinaemia and systemic inflammation.

Learning points: Adult-onset Still's disease (AOSD) may, in rare cases, present with the histopathological features of Kikuchi-Fujimoto disease, posing a significant diagnostic challenge and potentially leading to error.The persistence of systemic symptoms (spiking fever, severe polyarthralgia) and most critically, extreme hyperferritinaemia (often >5,000 μg/l) necessitate the immediate calculation of the H-score. A low H-score and the presence of neutrophilic leucocytosis are key factors in differentiating AOSD from macrophage activation syndrome (MAS) and hemophagocytic lymphohistiocytosis.This case highlights the necessity of rapid initiation of targeted immunosuppressive therapy (e.g., IL-1 inhibitors) to treat the underlying AOSD and prevent complications like MAS.

Background: Clinical evaluation of a patient with undifferentiated shock is challenging without the bedside clinical utility of point-of-care ultrasound (POCUS). Scenarios can become complicated when a patient becomes non-transferrable in the critical care unit. POCUS can aid physicians in diagnosing and implementing early management. The retroperitoneal space can accommodate significant bleeding before it becomes apparent. The retroperitoneal space is not included in the POCUS protocol for patients in shock.

Case presentation: We present a case of the history of ischemic cardiomyopathy and atrial fibrillation on apixaban. The patient developed hypotension and severe anaemia. The cause of shock was unclear clinically until POCUS showed a retroperitoneal hematoma. In this shock patient the hematoma was detected by a modified rapid ultrasound that added examination of the retroperitoneal space.

Discussion: The retroperitoneal space is highly vascular and liable to bleed in patients on antiplatelet and anticoagulation. Including the space in the standard POCUS protocols for shock enables visualization of the retroperitoneal compartment and enhances the ability to detect hidden fluid accumulations.

Conclusion: A modified POCUS protocol, including the retroperitoneal space, for a patient with unexplained haemorrhagic shock, can help in early detection of the site of haemorrhage.

Learning points: The retroperitoneal space can hold a significant amount of blood before it becomes clinically apparent.Including the retroperitoneal space in the Rapid-Ultrasound for Shock and Hypotension protocol can help in early detection of the site of haemorrhage in a patient with unexplained haemorrhagic shock.

Background: Osteopetrosis comprises a group of rare skeletal dysplasias characterized by increased bone density and paradoxical bone fragility. Among its forms, autosomal dominant osteopetrosis (ADO) is most frequently associated with mutations in the CLCN7 gene, encoding a chloride antiporter essential for osteoclast function. CLCN7-related ADO results from impaired osteoclast acidification and decreased bone resorption. Although bone mineral accumulation is characteristic, skeletal fragility and complications such as osteomyelitis and cranial nerve compression may occur.

Case report: We report three related individuals who exhibited increased bone density and pathognomonic radiographic appearances of "bone-within-bone" and "sandwich-vertebrae". Genetic testing identified a novel heterozygous CLCN7 mutation, confirming the diagnosis of ADO. This family's novel mutation expands the known genotypic spectrum of ADO and underscores the value of genetic testing in adult-onset bone dysplasias with atypical presentation.

Conclusion: This case report highlights the diagnostic importance of recognizing characteristic radiographic patterns and confirming them through molecular analysis, emphasizing the need for multidisciplinary follow-up and appropriate genetic counselling.

Learning points: Characteristic radiographic features such as "bone-within-bone" and "sandwich vertebrae" are highly suggestive of autosomal dominant osteopetrosis.CLCN7 pathogenic variants account for most cases of autosomal dominant osteopetrosis and justify early genetic testing.This case highlights a novel CLCN7 mutation, reinforcing the genetic heterogeneity of osteopetrosis and the value of family screening.

Background: Kaposi's sarcoma (KS) is a low-grade vascular neoplasm associated with human herpesvirus-8 (HHV-8), frequently occurring in immunocompromised patients, particularly those with human immunodeficiency virus (HIV)Its clinical presentation varies from innocuous-appearing vascular skin lesions to visceral involvement. There are case reports of a rare type of KS which mimics pyogenic granulomas particularly on the feet though reports of KS in immunocompetent, healthy individuals are rare. In this report we share the case of an immunocompetent, healthy young adult male who presented with a lesion concerning for pyogenic granuloma that was found on pathology to be KS.

Case report: We report the case of an HIV-negative, immunocompetent young adult Latin American male who presented with a painful, rapidly growing lesion between his first and second toe. The lesion was initially diagnosed as a wart. After failing salicylic acid and cryotherapy the lesion had a more vascular appearance, as shown in Figure 1. Excisional biopsy was obtained with pathology revealing KS, which was confirmed via latency-associated nuclear antigen (LANA) immunostaining. HIV testing was obtained at three time points, all of which were negative. Patient denied high risk behaviours including sex with men and intravenous drug use. Re-excision for margins was completed with dermatology and pathology again confirmed KS with localized disease. Patient received definitive treatment from dermatology and oncology, emphasizing the multidisciplinary nature of KS management.

Conclusion: KS should be included in the differential diagnosis for vascular lesions particularly involving the feet, even in immunocompetent adults.

Learning points: Kaposi's sarcoma can mimic benign skin lesions, making it essential for providers to maintain a high index of suspicion in cases of atypical, recurrent, or rapidly evolving lesions.Atypical features and diagnostic uncertainty should prompt escalation to biopsy and pathology review, even in patients without known immunosuppression.