SAGE Open Medical Case Reports最新文献

Hereditary angioedema (HAE) is a rare autosomal dominant condition characterized by C1-INH gene mutations, leading to recurrent angioedema episodes affecting various body parts, including the gastrointestinal tract. This case report describes a 24-year-old female presenting with symptoms mimicking an acute abdomen, characterized by severe abdominal cramps, anorexia, and diarrhea, with a significant past medical history of angioedema flares and emergency intubation for asphyxiation at age 11. Despite initial treatment with antihistamines showing no improvement, her symptoms spontaneously resolved. Further investigation revealed low complement C4 levels and reduced C1-INH function, confirming HAE with an unusual isolated involvement of the ascending and transverse colon. This case underscores the importance of considering HAE in patients presenting with acute abdominal symptoms, especially with a history suggestive of angioedema. It highlights the need for emergency physicians and gastroenterologists to be aware of HAE's clinical manifestations to avoid misdiagnosis and unnecessary interventions. Moreover, the case emphasizes the significance of patient education on recognizing symptoms and seeking timely medical attention to prevent severe complications. This report adds to the existing literature by detailing an uncommon presentation of HAE, aiming to enhance early diagnosis and management of this potentially life-threatening condition.

IgG4-related disease is a fibroinflammatory condition characterized by dense lymphoplasmacytic infiltrates rich in IgG4-positive plasma cells affecting multiple organs. Though the most common renal manifestation of IgG4-related disease is tubulointerstitial nephritis, it can rarely present as secondary membranous nephropathy. We present a case of a 75-year-old male with phospholipase A2 receptor-negative membranous nephropathy as an atypical manifestation of IgG4-related disease. The patient presented with nephrotic syndrome and was found to have elevated serum IgG4 levels and IgG4-positive plasma cells in the kidney biopsy. He was successfully treated with corticosteroids and rituximab, resulting in significant improvement in proteinuria and normalization of IgG4 levels. This case highlights the importance of considering IgG4-related disease in patients with phospholipase A2 receptor-negative membranous nephropathy, especially in those with a history of other organ involvement. Early recognition and treatment of IgG4-related disease are crucial to prevent progressive kidney damage and improve patient outcomes.

Polymorphic ventricular tachycardia (PVT) is a group of life-threatening heart rhythm disorders. These arrhythmias share similar electrocardiographic characteristics but require different modes of therapy for effective treatment. It is important to note that the medications that are considered the first-line treatment for one type of PVT may not be appropriate for another type, and may worsen the condition. Therefore, it is crucial to accurately diagnose the type of PVT before initiating treatment to provide the most effective therapy for the patient. A 42-year-old man was admitted to the emergency department with dyspnea, Levine sign, and severe chest pain. His electrocardiogram showed ST elevation, and the QT interval was normal. The patient was sent to the cath lab based on the treatment protocols. According to the results of angiography, three coronary arteries were severely obstructed. His coronary arteries did not open during percutaneous coronary intervention; thus, the healthcare team decided on open heart surgery. He suffered from recurrent PVT following open heart surgery and did not respond to any of the drugs suitable for this type of tachycardia. Inderal prevented the recurrence of ventricular tachycardia (VT) in a patient with polymorphic VT without QT prolongation, contrary to the healthcare team's expectations. Inderal was used as the last line of treatment because this patient's arrhythmia was polymorphic VT without QT prolongation. Inderal is typically used for treating VT in patients with long QT syndromes and heart structural disorders. This case report aims to highlight the impact of Inderal on polymorphic tachycardia, specifically in cases where the QT interval is not elongated. In this particular case, the standard treatment approaches were ineffective in preventing reversibility, but Inderal proved to be successful. Therefore, we feel it is important to document and share this case.

Acute coronary syndromes are a clinical entity frequently encountered in practice and are responsible for significant morbidity and mortality, despite therapeutic advances. The initiation of early reperfusion therapy reduces mortality and morbidity and improves patients' prognosis, but this depends on how quickly patients receive their treatment. Although it is often easy to diagnose in the presence of typical symptoms, certain patients, such as diabetics, sometimes have atypical symptoms, resulting in a delay in management. In nearly 50% of cases, inferior wall ischaemia is accompanied by right ventricular myocardial infarction; the clinical outcomes range from no hemodynamic compromise to severe hypotension and cardiogenic shock. In this article, we present the case of a 54-year-old male patient with active smoking and poorly controlled type 2 diabetes as cardiovascular risk factors who initially consulted at the first hour for epigastric pain, for which he received symptomatic treatment. As the symptoms persisted, he was admitted to our department at the eighth hour, where he was diagnosed with a biventricular infarction.

Enterocutaneous fistula is a dreaded complication by most surgeons especially after emergency abdominal surgery. It can also occur spontaneously from an underlying disease. The pathology is demanding both mentally and physically and causes medical and nursing problems for the affected individual. In this case report we present a timeline of a young 4-year-old boy who sustained penetrating abdominal-perineal injury from a fall and later presented with peritonitis. His condition progressed to complicate into enterocutaneous fistula and succumbed unfortunately due to multifactorial reasons. This shows the impact and burden of the disease pathology not only on patients but also on the medical system as a whole.

The cohesin protein complex plays a vital role in various cellular processes such as sister chromatid cohesion, chromosome condensation, DNA repair, and transcriptional regulation. It is constituted by SMC1, SMC3, RAD21, STAG1/STAG2 subunits, and several regulatory proteins. Pathogenic variants in these components cause cohesinopathies, with common clinical features including facial dysmorphism, delayed growth, developmental delay, and limb anomalies. Pathogenic variants in the STAG1 contribute to an emerging syndromic developmental disorder with only 21 reported cases in the literature. We describe a 3-year-old girl presenting with congenital bilateral clubfoot and unilateral microphthalmia-clinical manifestations not previously reported in the literature. Whole exome sequencing revealed a novel de novo nonsense variant (c.1183C>T, p.(Arg395*)) in the STAG1, expanding the clinical and molecular spectrum of STAG1-related cohesinopathy. This patient's unique phenotype highlights the clinical diversity within cohesinopathies, emphasizing their relevance in cases of developmental delay and dysmorphic features. Further studies, including genotype-phenotype correlation analyses and functional investigations, are essential for enhancing our understanding of STAG1-related cohesinopathy.

Incidental extra-prostatic prostate-specific membrane antigen (PSMA) uptake on initial staging positron emission tomography/computed tomography (PET/CT) scans poses diagnostic challenges, as it can be associated with various benign and malignant lesions. We present the case of a 68-year-old man with very high-risk prostate cancer who was incidentally discovered to have a benign granular cell tumor in the breast initially detected on PSMA-PET/CT. Imaging studies and biopsy were pivotal in the diagnosis, as the tumor's appearance was concerning for breast carcinoma. Recognizing extra-prostatic PSMA uptake in the breast, particularly in patients with prostate cancer, is crucial for guiding appropriate management, accurately interpreting subsequent imaging findings, and assessing radiologic-pathologic correlation.

Coexistent aneurysmal involvement of common iliac artery is frequently seen in patients with infrarenal abdominal aortic aneurysm. Bilateral iliac branch devices are an option to preserve bilateral internal iliac arteries in order to decrease the risk of buttock claudication. In Asian population, however, the aortoiliac lengths are commonly not adequate for bilateral iliac branch endoprosthesis. In this technical note, we use a novel hybrid technique to preserve bilateral internal iliac arteries in a patient without adequate aortoiliac length for bilateral iliac branch endoprosthesis. The right internal iliac artery is preserved with iliac branch endoprosthesis. The left internal iliac artery is preserved with cross-over chimney stent grafts which are deployed simultaneously with the parallel grafting of iliac extension from the contralateral gate to the right iliac branch endoprosthesis. Follow-up computed tomography and three-dimensional angiography showed complete aneurysm exclusion with flow preservation to bilateral internal iliac arteries.

Hemiplegic migraine is a rare form of migraine characterized by aura with unilateral paralysis; however, studies on its treatment are limited. A 39-year-old man with migraine headaches and myofascial pain syndrome was referred to our hospital with transient right hemiplegia, after presenting to an outside emergency department with headache and right hemiplegia 2 days prior. Computed tomography, magnetic resonance imaging, and blood test results revealed no abnormalities. The symptoms resolved spontaneously; he was referred to our hospital. Based on the International Classification of Headache Disorders, Third Edition criteria, he was diagnosed with sporadic hemiplegic migraine. Propranolol was added to his regular regimen as prophylactic treatment, which resulted in reduction in his migraine frequency. Over the next 2 years, no recurrent paralysis occurred. Hemiplegic migraines should be considered in patients with migraine exhibiting transient hemiplegia without obvious intracranial abnormalities. Prophylactic treatment with propranolol could be effective in treatment of hemiplegic migraine.

Torsion and rupture are life-threatening emergencies in rudimentary horn pregnancy, an extremely rare type of ectopic pregnancy. This case report aims to share the diagnosis and treatment of a patient, with torsion and ruptured horn pregnancy in a setting, with limited resources. It highlights the challenges faced and the strategies employed to ensure appropriate care. A 38-year-old woman, gravida 2, para 1, presented to the Obstetric and Gynaecology (OBGYN Department of Hiwot Fana University Hospital with a diagnosis of uterine rupture after she presented with a complaint of pushing down pain of 1 h, decreased fetal movement of 1-day duration, and with sudden and severe lower abdominal pain and distension. Conservative management was chosen, but deteriorating symptoms necessitated an emergency laparotomy, confirming a ruptured rudimentary horn pregnancy and surgically excising the horn. Ruptured rudimentary horn pregnancy with torsion is an extremely uncommon and perilous obstetric emergency that necessitates swift diagnosis and surgical intervention. For advanced primitive horn pregnancy, laparotomy combined with horn removal continues to be the gold standard of therapy. Healthcare providers can improve patient outcomes and alleviate the burden of life-threatening conditions by promoting multidisciplinary collaboration and embracing innovative, technologically advanced techniques.