Archive of clinical cases最新文献

Anifrolumab, an inhibitor of the type I interferon receptor, is increasingly used for moderate to severe systemic lupus erythematosus (SLE). Although clinical trials report a favorable safety profile, real-world data remain limited. A 32-year-old woman with long-standing SLE developed fever, mucocutaneous bleeding, confusion, and seizures approximately ten weeks after initiating anifrolumab. Laboratory evaluation demonstrated microangiopathic hemolytic anemia, severe thrombocytopenia, elevated lactate dehydrogenase, and markedly reduced ADAMTS13 activity (10%). Other causes of thrombotic microangiopathy were excluded. The patient received plasma exchange, corticosteroids, caplacizumab, and rituximab, resulting in full neurologic and hematologic recovery. The close temporal relationship between anifrolumab initiation and onset of immune-mediated thrombotic thrombocytopenic purpura raises a possible drug-related association, although causality cannot be established from a single case. Clinicians should remain vigilant for new cytopenia or neurologic symptoms in patients starting interferon-pathway-targeted biologic therapy. Further pharmacovigilance is required to determine whether this represents a coincidental occurrence or a signal of potential risk.

This case report presents initial and follow-up findings of a rare case of bilateral internal limiting membrane (ILM) detachment and sub-ILM hemorrhage in a 7-year-old child with Ewing sarcoma, associated with papilloedema due to a brain metastasis and the use of optical coherence tomography (OCT) in the evaluation and follow-up. The child was diagnosed with Ewing sarcoma and she was referred to the ophthalmology clinic because of blurry vision, anisocoria, and strabismus one week after the operation for brain metastasis. Fundus examination showed bilateral grade IV papilloedema, well-defined dome-shaped area extending towards the optic discs with inferiorly located hemorrhage. OCT revealed bilateral ILM detachment surrounded with a ring-shaped retinal elevation and inferiorly located sub-ILM hemorrhage. On the follow-up examinations OCT showed decrease of height of ILM detachment with resolution of sub-ILM hemorrhage. ILM detachment associated with papilloedema due to a brain metastasis is an exceedingly rare occurrence, making this case particularly significant in understanding ocular manifestations of intracranial pathology. OCT plays a crucial role in diagnosing and monitoring the progression of ILM detachment and associated sub-ILM hemorrhage, offering invaluable insights into the pathophysiology of raised intracranial pressure. Recognizing ocular signs such as papilloedema is critical for early detection of intracranial complications in pediatric patients.

A 27-year-old female presented with a rapidly progressive demyelinating syndrome with anti aquaporin-4 (AQP4) antibodies, initially diagnosed as neuromyelitis optica spectrum disorder (NMOSD). A comprehensive evaluation, prompted by systemic symptoms including chronic polyarthralgia, bicytopenia, and a history of recurrent pregnancy loss, revealed a concurrent diagnosis of systemic lupus erythematosus (SLE), confirmed by positive antinuclear (ANA) and anti-double-stranded DNA (anti-dsDNA) antibodies. The co-occurrence of AQP4-positive NMOSD and SLE is a rare but well-documented clinical phenomenon that presents a unique diagnostic and therapeutic challenge. This also highlights the need for a thorough rheumatological assessment to identify underlying systemic autoimmune diseases in atypical neurological presentations with extra-neurological signs.

Insulinoma is a rare functional neuroendocrine tumor of pancreatic islet cells that produces excessive insulin leading to neuroglycopenic and autonomic symptoms relieved by glucose. We report a case of a 39-year-old woman with recurrent neuroglycopenic symptoms for nearly five years, initially misdiagnosed as migraine, until she presented to ED with a collapse secondary to hypoglycemia. Biochemical confirmation was obtained during a supervised 72-hour fast, with symptomatic hypoglycemia which showed lowest glucose levels of 1.7mmol/L, elevated C-peptide levels of 2,271pmol/L, high insulin levels of 83.5 mU/L and a negative sulfonylurea screen. Imaging demonstrated a large hyper enhancing pancreatic mass, confirmed by ⁶⁸Ga-DOTATATE PET as a solitary lesion without metastasis. Histopathology revealed a well-differentiated Grade 1 neuroendocrine tumor measuring 90×65×40 mm. Following surgical intervention, she demonstrated a successful recovery. This case emphasizes the need to consider insulinoma early in the differential diagnosis of recurrent neuroglycopenic episodes to prevent serious complications and avoid inappropriate treatments.

Neuropsychiatric systemic lupus erythematosus (NPSLE) is a rare but severe manifestation of systemic lupus erythematosus in adolescents, with psychosis-predominant presentations occurring in approximately 5-12% of pediatric cases. Such manifestations may precede or obscure classic systemic features, often resulting in diagnostic delays and initial misattribution to primary psychiatric or infectious etiologies. We present the case of a previously healthy 19-year-old female who developed acute psychosis characterized by paranoia, auditory hallucinations, disorganization, and suicidal ideation over five days. Immunosuppressive therapy was initiated with pulse-dose methylprednisolone, followed by intravenous immunoglobulin and rituximab. Early consideration of autoimmune etiologies and a multidisciplinary approach, including rheumatology, psychiatry, neurology, and nutrition, are essential to optimize outcomes in this vulnerable population. The patient's limited psychiatric response despite immunologic improvement underscores the delicate balance between prompt immunosuppression and the neuropsychiatric risks associated with corticosteroid therapy. This case highlights the diagnostic challenges of psychosis-predominant NPSLE in adolescents complicated by nutritional and infectious factors, whilst emphasizing the importance of early recognition of autoimmune etiologies and multidisciplinary management for optimal outcomes.

Reverse Takotsubo syndrome (rTTS) is an acute cardiomyopathy characterized by prominent dysfunction in the basilar and mid-ventricular segments with apical hyperkinesis, often triggered by excessive stress hormone release. Sepsis can exacerbate this process. We present a unique case of a 27-year-old male with no chronic illnesses who developed sepsis-triggered rTTS resulting in cardiogenic shock. The initial presentation included nausea, vomiting, tachypnea, and fluctuating blood pressure. Laboratory findings revealed elevated cardiac and inflammatory markers, metabolic acidosis, and bacteremia caused by Staphylococcus aureus. Echocardiography showed an initial left ventricular ejection fraction (LVEF) of 45% with basal mid-ventricular hypokinesia and apical hyperkinesis, characteristic of rTTS. Coronary angiography excluded obstructive coronary artery disease. The patient developed cardiogenic shock (SCAI Stage D) requiring vasopressors and mechanical circulatory support with an Impella CP® device. Complications included acute kidney injury requiring renal replacement therapy and posterior reversible encephalopathy syndrome (PRES). With targeted antimicrobial therapy and supportive care, the patient's LVEF improved to 60-65%, and he made a significant clinical recovery. This case highlights the importance of recognizing sepsis as a trigger for rTTS and the potential for full recovery with prompt, aggressive management, including mechanical circulatory support.

Extracorporeal membrane oxygenation (ECMO) has historically been avoided in oncological patients due to perceived risks. However, recent literature suggests improved survival rates for pediatric oncology patients. Additionally, necrotizing fasciitis from Clostridium septicum is associated with high morbidity and mortality, especially in patients with preexisting malignancies. Few studies have explored the outcomes of ECMO in patients with both necrotizing fasciitis and hematologic malignancies. We present a case of a 16-year-old male with pre-B cell acute lymphoblastic leukemia (ALL) and Clostridium septicum necrotizing fasciitis successfully supported with veno-arterial (VA) ECMO. The patient underwent induction chemotherapy for ALL but developed severe septic shock and necrotizing fasciitis. The patient was deemed an ECMO candidate based on the favorable prognosis of both ALL and necrotizing fasciitis. He underwent ECPR and was cannulated onto VA ECMO. Surgical interventions were performed while on ECMO, including debridement and abdominal wound management. Despite complications such as gastrointestinal bleeding, the patient was successfully decannulated from ECMO after eight days. He recovered well, with no recurrence of bleeding, resumed chemotherapy, and was discharged home on day 54. Follow-up appointments showed remission from ALL and good functional recovery. This case highlights the feasibility and success of ECMO support in an adolescent with both ALL and necrotizing fasciitis. Careful patient selection, multidisciplinary collaboration, and aggressive management of complications are crucial for favorable outcomes in such complex cases. ECMO candidacy should be considered on an individual basis, even in patients with high-risk surgical interventions.

Upper extremity deep vein thrombosis (UEDVT) is an uncommon clinical condition, accounting for fewer than 10% of all deep vein thromboses. While catheter-associated thrombosis and anatomical abnormalities are well-recognized causes, spontaneous UEDVT may occasionally serve as the first manifestation of an underlying malignancy. We report the case of a 43-year-old previously healthy male who developed spontaneous thrombosis of the left subclavian vein. He tested heterozygous for the Factor V Leiden mutation. Imaging revealed a large anterior mediastinal mass compressing the brachiocephalic vein. Histopathology confirmed a teratoma with enteric-type adenocarcinomatous differentiation. The patient underwent neoadjuvant chemotherapy followed by complete tumor resection and remained recurrence-free at one-year follow-up. This case underscores the importance of thorough diagnostic evaluation in patients with idiopathic UEDVT, particularly in the absence of catheterization or mechanical triggers. We review the spectrum of malignancy-associated UEDVT, including mechanisms such as venous compression, invasion, and paraneoplastic hypercoagulability. Spontaneous UEDVT can be the initial clinical sign of an occult malignancy. Early imaging and hemostatic assessment are crucial for timely diagnosis and treatment.

While Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) is normally associated with obesity, increasing evidence points to a substantial disease burden in individuals with normal body mass index (BMI), a phenotype referred to as "lean MASLD." This study aims to characterize the prevalence, metabolic risk profile, and hepatic involvement in lean MASLD within an Eastern European population, and to assess the diagnostic limitations of BMI-centered screening. Material and methods: An observational study was conducted on 1,438 adults undergoing comprehensive metabolic and hepatic evaluation, including vibration-controlled transient elastography (VCTE) with controlled attenuation parameter (CAP) for liver steatosis and fibrosis. A detailed analysis focused on the normal-weight subgroup (BMI <25 kg/m²). In addition to standard anthropometric and laboratory markers, the CUN-BAE index was used to assess body fat composition. Performance of non-invasive indices (FLI, HSI, FIB-4, APRI, NFS) was evaluated, and multivariate logistic regression was used to identify predictors of steatosis and fibrosis. The study was conducted between January 2023 and February 2025. Results: MASLD was present in 19.28% of normal-weight individuals-an unexpectedly high prevalence given the absence of overt obesity. Despite normal BMI, this cohort demonstrated considerable metabolic dysfunction, including hypertension (26.47%), hypercholesterolemia (46.54%), and type 2 diabetes (18.38%). Visceral adiposity, as captured by the CUN-BAE score, emerged as a significant independent predictor of hepatic steatosis (p < 0.001). Conventional non-invasive steatosis and fibrosis scores exhibited only moderate discriminatory ability in lean individuals. Comparative analysis revealed significant metabolic and hepatic disparities between lean and obese MASLD phenotypes. Conclusion: Lean MASLD is an underrecognized yet clinically meaningful entity in Eastern Europe, frequently associated with metabolic derangements despite normal BMI. Reliance on BMI alone may obscure diagnosis and delay intervention. Visceral adiposity assessment and advanced non-invasive hepatic evaluation should be integrated into screening strategies to improve early detection and risk stratification in lean individuals.