SAGE Open Medical Case Reports最新文献

Eosinophilic gastrointestinal is an uncommon disorder affecting all tissues of the digestive tract. Eosinophilic gastroenteritis presents with a complex clinical profile, lacks specificity, and is prone to misdiagnosis in patients without evident allergens. In some instances, it is mistaken for an acute abdomen or a gastrointestinal tumor, potentially leading to unnecessary surgical interventions. We present the case of a 21-year-old female with eosinophilic gastroenteritis whose primary clinical manifestations were abdominal pain and ascites.

Untreated Turner syndrome increases the risk of ischemic cardiomyopathy. We report a 44-year-old Chinese woman who was diagnosed with Turner syndrome owing to symptoms of ischemic cardiomyopathy and heart failure confirmed through cardiac magnetic resonance imaging, coronary angiography, and abnormal brain natriuretic peptide levels. The patient had a short stature, underdeveloped uterus with primary amenorrhea, and congenital left upper pulmonary vein reflux to the right atrium; she was diagnosed with Turner syndrome through karyotype analysis. Because she refused coronary artery bypass grafting, she received aspirin, torasemide, atorvastatin, bisoprolol, sacubitril/valsartan, empagliflozin, spironolactone, and complex packing estradiol tablets/estradiol and dydrogesterone tablets (1-10 mg). After 3 months of treatment, her heart failure symptoms disappeared. Ischemic heart disease is a high-risk complication in patients with Turner syndrome. Prompt diagnosis and comprehensive management through a multidisciplinary approach can improve patient outcomes. Further evidence is needed to establish a secondary prevention strategy for Turner syndrome with ischemic cardiomyopathy.

Dupilumab, a monoclonal antibody that targets interleukin-4 and interleukin-13, is one of the approved biologic treatments for moderate-to-severe atopic dermatitis. While it is extremely well tolerated with low rates of adverse events, there have been reports of patients with atopic dermatitis managed on Dupilumab developing new-onset psoriasis. The development of psoriasis in patients with atopic dermatitis on Dupilumab therapy is believed to occur due to a decrease in T helper 2 activity and resultant dysregulation of the T helper 1 and T helper 17 pathways involved in psoriasis pathogenesis. Upadacitinib, an oral, selective Janus kinase 1 inhibitor, approved for use in moderate-to-severe atopic dermatitis as well as psoriatic arthritis may have a potential role in psoriasis treatment. We describe a case of a patient who initially presented with longstanding atopic dermatitis that underwent a psoriasiform switch while managed on Dupilumab and is currently stable on Upadacitinib.

Managing kidney transplant recipients during pregnancy presents significant challenges, particularly in balancing the interactions and safety concerns of immunosuppressive medications such as mycophenolate mofetil and tacrolimus. Pregnancy can affect tacrolimus levels, and its safety profile during pregnancy remains underexplored. When the patient also hasa human immunodeficiency virus, management becomes even more complicated due to potential interactions between antiretrovirals and immunosuppressants. Notably, tacrolimus is highly susceptible to drug-drug interactions. Even minor adjustments in highly active antiretroviral therapy can result in significant fluctuations in tacrolimus levels, potentially leading to subtherapeutic concentrations (increasing the risk of rejection) or supratherapeutic levels with toxicity. Tacrolimus toxicity is often managed by administering cytochrome P450 enzyme inducers, with the choice of agent depending on factors such as the degree of enzyme induction. Agents such as isoniazid or rifampicin are typically considered. In this case report, we described the treatment of tacrolimus toxicity with rifampicin in a pregnant kidney transplant recipient with a newly diagnosed human immunodeficiency virus infection.

Palmoplantar plaque psoriasis is more resistant to therapy compared to other phenotypes of psoriasis. To our knowledge, there are no reports of the efficacy of Janus kinase (JAK) inhibitors for palmoplantar plaque psoriasis. Two adult females presented with more than 6-year histories of severe palmoplantar plaque psoriasis. The first patient had failed topical therapies, phototherapy, acitretin, and secukinumab. The second patient had failed topical therapies and systemic agents including alitretinoin, cyclosporine, apremilast, ustekinumab, ixekizumab, and risankizumab. Both cases were switched to upadacitinib 15 mg daily, with a complete response by 3 months of therapy and no adverse events. The first patient had slightly elevated fasting triglyceride and the second patient had elevated ALT, both of which are being monitored. This case series highlights the efficacy of upadacitinib in two patients with refractory palmoplantar plaque psoriasis. JAK1 inhibitors may be considered as third-line therapeutic options in patients with refractory palmoplantar plaque psoriasis and no contraindications to JAK inhibitors.

Myxomatous degeneration of a valve is a non-inflammatory degenerative process due to the disruption of the fibrous layer of the valve with mucopolysaccharide accumulation. It is mostly seen in the mitral valve but involvement in only aortic valve is rare. Here we present a case report of a 37-year-old man who came with shortness of breath for the past three months and was diagnosed with severe aortic regurgitation due to myxomatous aortic valve causing rupture of the non-coronary and right coronary cusp. After preoperative workup, he was taken for aortic valve replacement surgery. Intraoperative findings confirmed the rupture of right and non-coronary cusps from their annular attachment and the myxomatous nature of the aortic valve. Histopathological examination confirmed the myxomatous changes in the valve. The patient underwent aortic valve replacement with a 23 mm TTK Chitra valve and on follow-up, he is doing well. Although aortic valve regurgitation is a common disease, myxomatous degeneration of isolated aortic valve leading to aortic regurgitation is rare. This patient did not have any signs of connective tissue disorders like Marfan's syndrome, Ehlers-Danlos, etc., but presented with myxomatous aortic valve throwing an insight into further research into this rare disease.

This is a case presentation of a primary central nervous system B-cell lymphoma in a 69-year-old woman with chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids and chronic immunosuppressive treatment. The patient had been diagnosed as having probable chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids, according to international criteria. Afterward, regular clinical and imaging examinations and blood tests were performed. The patient presented with primary central nervous system B-cell lymphoma 3 years after the initial diagnosis of chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids. Brain tissue histology was indicative of diffuse giant B cells, Epstein-Barr virus positive, and non-Hodgkin lymphoma. The nature of chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids is obscure, driving the formulation of many hypotheses about its causes. In our opinion, the presented case supports the putative neoplastic nature of the disease, at least in the long term, and/or along with Epstein-Barr virus involvement, which is known that have been related to other immune-mediated diseases such as multiple sclerosis and malignancies, especially with specific human leukocyte antigen haplotypes. Further research is needed and close monitoring of such patients is strongly recommended.

[This corrects the article DOI: 10.1177/2050313X231211048.].

Chronic subdural hematoma is a common condition in neurosurgical practice. It is usually treated by burr-hole surgery. Patients with coagulopathies such as antiphospholipid syndrome, are at increased risk of complications, and careful consideration of the patient's specific risk of both bleeding and thromboembolic complications must guide medical management. We present the case of a 34-year-old who presented to the neurosurgical department with a chronic subdural hematoma. She had a medical history of triple-positive antiphospholipid syndrome, lupus, and mechanical aortic valve replacement due to Libman-Sacks endocarditis. It was considered of high risk to proceed with traditional burr-hole surgery, so instead embolization of the middle meningeal artery was performed. Postoperatively the patient gradually improved, and a scan at 6 months showed complete regression of the hematoma. She later presented with a contralateral subdural hematoma, which was also successfully treated with middle meningeal artery embolization. Unfortunately, she suffered from an intracerebral hemorrhage shortly afterward, which was treated conservatively by careful management of her anticoagulant therapy. She has now made a full recovery at 4 months follow-up.

A 15-year-old girl presented with new onset tonic-clonic seizures, encephalopathy, abdominal pain, and hypertension with a history of weight loss and emesis. Brain magnetic resonance imaging scans showed diffuse, bilateral cortical and subcortical gray and white matter signal abnormalities. Electroencephalography showed background slowing and disorganization. Extensive evaluation for infection, toxic metabolic, autoimmune disorders, and vasculitis were negative. She was noted to have dark red-colored urine with no red blood cells. Her urine porphobilinogen level was markedly elevated, consistent with the diagnosis of acute intermittent porphyria. She was treated with intravenous hemin with resolution of her neurologic and gastrointestinal symptoms. A hydroxymethylbilane synthase (porphobilinogen deaminase) pathogenic variant was found in porphyria gene panel confirming the diagnosis of acute intermittent porphyria. This case demonstrates a diagnostic challenge posited by a presentation of new onset seizure and encephalopathy due to acute intermittent porphyria, a rare and often overlooked condition in pediatrics.