SAGE Open Medical Case Reports最新文献

Granulomatosis with polyangiitis, a type of small-medium vessel vasculitis, can pose diagnostic challenges due to its diverse clinical manifestations. We present a case that mimicked multisystem pyoderma gangrenosum with cutaneous ulceration, renal sparing, and antineutrophil cytoplasmic antibody negativity. Although antineutrophil cytoplasmic antibody is positive in approximately 90% of cases of granulomatosis with polyangiitis, its negativity should not exclude the diagnosis. Additionally, pyoderma gangrenosum-like cutaneous ulcers should prompt consideration of granulomatosis with polyangiitis, especially in the context of multisystem disease presentation. This case underscores the importance of maintaining a high suspicion for granulomatosis with polyangiitis in patients presenting with cutaneous ulceration and respiratory tract disease.

To report a novel variation in the TRIM8 gene in a Chinese patient who developed focal segmental glomerulosclerosis (FSGS) and neurogenic bladder. Retrospective analysis of the clinical manifestations, laboratory results, renal biopsy results, and genetic data of the patient with FSGS complicated with neurogenic bladder. The patient was a 6-year and 8-month-old Chinese Zang ethnic boy with low-set ears, widely-spaced eyes (inner canthal distance exceeds the 95th percentile of normal inner canthal distance), a small jaw, and a short neck. He could not walk and speak complete sentences until age of 2 years. At age of 4 years, the boy was noticed to have daytime urinary incontinence, hesitancy, and urgency. Combined with urodynamic examination and magnetic resonance imaging examination results, the patient was diagnosed with a neurogenic bladder. Proteinuria was also found. The levels of uric acid, serum creatinine, and blood urea nitrogen were increased. Vitamin D deficiency, hypokalemia, hypocalcium, and hypophosphorus were detected. Urinary ultrasound showed shrinkage of both kidneys. After hospital admission, he was diagnosed with FSGS and stage 3b chronic kidney disease (CKD). Eight months after the first diagnosis, the disease progressed to stage 5 CKD. Gene analysis using whole-exome capture and sequencing revealed a de novo heterozygous pathogenic variation in the TRIM8 gene [NM_030912.2.2:c.1484G>A (p.RP495 *)]. This pathogenic TRIM8 variation and the combined clinical manifestations of neurogenic bladder and FSGS have not been previously reported in the literature. We report a rare Chinese case of FSGS and neurogenic bladder associated with a novel de novo heterozygous variation in the TRIM8 gene. The findings expanded the clinical spectrum of TRIM8 pathogenic variations.

A 56-year-old male presented to the clinic for follow-up of severe, longstanding hidradenitis suppurativa. On physical examination, there was a linear Blaschkoid distribution of erythematous scaly papules extending from the left upper arm toward the scapular mid-back region. A clinical diagnosis of linear psoriasis was made, and the patient's dosage interval of infliximab was decreased to every 6 weeks. The patient was offered Betamethasone diproprionate/calcipotriol (Enstilar) topical foam to use daily which demonstrated efficacy in clearing 90% of the affected areas. This case illustrates the potential for Betamethasone diproprionate/calcipotriol (Enstilar) topical foam use as a treatment approach for anti-tumor necrosis factor-alpha inhibitor-induced linear psoriasis. At present there is no consensus on linear psoriasis pathogenesis or best treatment approach, therefore, more research is needed to understand its pathogenesis and establish management guidelines.

Leprosy remains a persistent health challenge in endemic regions with cases rising in non-endemic regions such as North America. Patients with leprosy present with a variety of symptoms including limited skin lesions in tuberculoid leprosy to extensive lesions and high bacterial proliferation in lepromatous leprosy. This case report details a 77-year-old Canadian man of South Asian descent with lepromatous leprosy and Lucio's phenomenon in Western Canada. The patient exhibited widespread retiform purpura on the limbs with localized ulcerations, erosions, and necrosis on the left hand and feet, peripheral neuropathy, and digit shortening. Histopathological examination and PCR confirmed Mycobacterium leprae. Management involved a 24-month multidrug therapy, leading to significant symptom reduction. This report highlights the diagnostic challenges of leprosy in non-endemic regions and the importance of a multidisciplinary approach for accurate diagnosis and treatment.

Haemophilus parainfluenzae, a HACEK organism, is one of five species known to less commonly cause infective endocarditis. This article presents a rare and noteworthy case of H. parainfluenzae endocarditis affecting the aortic valve, seemingly unique when Haemophilus species in endocarditis were previously known to more commonly involve the pulmonic or mitral valves. In the setting of H. parainfluenzae bacteremia, a 61-year-old male with no significant past medical history exhibited subtle systemic symptoms with a paucity of clinical signs associated with endocarditis and no evidence of embolic disease. A thorough workup demonstrated a large vegetation involving the aortic valve causing acute aortic insufficiency necessitating subsequent replacement of the aortic valve. In follow-up appointments with providers, the patient demonstrated excellent recovery returning to his baseline activity within 6 months. This case highlights the importance of considering endocarditis in Haemophilus bacteremia, especially in those with an unclear source of infection. Recognition of these rare presentations can assist with timely diagnosis and appropriate management, thus improving patient outcomes.

calcific carotid stenosis is becoming more common as the advanced-age population grows, requiring new therapeutic approaches. As such, transcarotid arterial revascularization is gaining significant popularity in the management of carotid stenosis due to low rates of perioperative complications and optimal clinical outcomes. In addition, intravascular lithotripsy has shown promise in safely facilitating the success of endovascular procedures in the context of calcified lesions. The combination of neuroprotective technology offered by transcarotid arterial revascularization and circumferential plaque remodeling by intravascular lithotripsy has been utilized for complex lesions. We present two cases of symptomatic calcific carotid stenosis treated with intravascular lithotripsy before transcarotid arterial revascularization. A 4 × 40 mm lithotripsy balloon delivered shockwaves at two and four atmospheres over a 0.014 wire. Transcarotid arterial revascularization was successfully completed without complications, and luminal patency was observed in both patients. Calcific carotid stenosis was effectively treated with intravascular lithotripsy before transcarotid arterial revascularization, resulting in optimal safety and clinical recovery. Thus, when combined with novel shockwave technology, the neuroprotective effect of flow reversal in transcarotid arterial revascularization procedures demonstrates promise in maintaining safety while providing a novel treatment technique for high-risk patients with calcific cervical internal carotid artery stenosis.

Thoracic combined spinal epidural anaesthesia offers the ideal perioperative anaesthesia and analgesia. A 78-year-old female presented to our hospital with a hypertensive emergency, non-ST elevation myocardial infarction and pulmonary effusion. Then the patient had abdominal pain, constipation and vomiting. When examined, there was significant abdominal distention. During a colonoscopy, there was a fungating mass lesion 20 cm from the anal verge. A biopsy was taken and showed intramucosal adenoma within tubulovillous adenoma with high-grade dysplasia. The patient underwent exploratory laparoscopy and laparotomy (sigmoidectomy, colostomy) under thoracic combined spinal epidural anaesthesia at T9-T10 interspinous space. The patient was classified as ASA5 according to the American Society of Anesthesiologists physical status. The guidelines recommend utilizing regional anaesthesia instead of general anaesthesia for compromised elderly patients. In our case, we report the first case in Palestine of an ASA5 patient who successfully underwent abdominal surgery under thoracic combined spinal epidural anaesthesia.

Basal cell carcinoma (BCC) is the most common type of skin cancer. The superficial subtype of BCC may present as a scaly erythematous plaque. This case report discusses a large BCC on the left scalp of an elderly patient who was treated for many years as plaque psoriasis. This report also discusses scouting biopsies as a valuable tool for the dermatologic surgeon to aid in cancer mapping. Finally, we describe the use of serial excisions using Mohs micrographic surgery on the advancing edge as a therapeutic option for large BCCs in high-tension areas.

This paper describes the case of a 15-year-old male patient who exhibited chest distress and pain following an upper respiratory tract infection. Upon admission, the patient exhibited elevated levels of myocardial enzymes and troponin I. Electrocardiography revealed an acute inferior myocardial infarction. Coronary computed tomography angiography ruled out coronary stenosis; however, cardiac magnetic resonance imaging revealed myocardial congestion and edema. Subsequent examinations revealed increased thyroid hormone levels and decreased thyroid-stimulating hormone levels, which is consistent with the manifestations of hyperthyroidism. The patient was diagnosed with acute fulminant myocarditis accompanied by iodine-induced hyperthyroidism. The patient received no pharmacologic treatment for hyperthyroidism but was prescribed a low-iodine diet, medication, and supportive treatment. His myocardial enzymes and troponin I levels gradually decreased, his electrocardiography and echocardiography results improved, and his cardiac function returned to normal. The patient was discharged and advised to maintain a low-iodine diet. At the 6-month follow-up, the patient's thyroid function and cardiac indicators had returned to normal. This case demonstrates that myocardial injury can result from myocarditis and iodine-induced hyperthyroidism and highlights the importance of closely monitoring and assessing thyroid function during treatment.

Traditionally reflecting critical stenosis of the proximal left anterior descending (LAD) artery, Wellens' syndrome (WS) is an electrocardiogram (ECG) pattern of biphasic or deeply inverted T waves in leads V2 and V3. This critical stenosis can progress to an extensive anterior myocardial infarction (MI) if early and appropriate management is not received promptly. The diagnosis of severe stenosis of the LAD coronary artery can be made by using electrocardiographic changes in Wellens' syndrome. Due to the significant area that the LAD vascularizes, patients who exhibit symptoms and test results suggestive of this syndrome should be referred right away for an angiographic exploration in order to confirm the diagnosis and guide treatment. We report a case of a 71-year-old male admitted to our department for acute chest pain. His ECG showed Wellens' syndrome type 2 during both chest pain and pain free with slightly elevated troponin. His TIMI score was 3 and the GRACE score was 136. Critical stenosis of the LAD coronary artery was found in the coronary angiography, which required a drug-eluting stent. The patient was discharged asymptomatic from medical therapy. The diagnosis was established on the basis of the patient's interview, ECG analysis, and coronary angiography.