Langerhans cell histiocytosis in the glenoid neck with rare mutation: A case report.

Langerhans cell histiocytosis (LCH) is a rare disease that occurs mainly in children. It has several forms of clinical presentation. Early diagnosis is important for better results. A 17-year-old male patient presented with right sharp shoulder pain for 2 months. Magnetic resonance image (MRI) of the shoulder showed an expansile osseous lesion in the anterosuperior spine of the right scapula with significant edema that causes compression of the subscapular neurovascular bundle. A CT scan and X-rays were also performed. Overall, all the images suggested a lesion compatible with chondroblastoma; however, the pathology images documented a Langerhans cell histiocytosis with a mutation in the V600E/E2/D in the 15 exon of the BRAF gene. LCH is a difficult diagnosis, especially in cases where clinical presentation is not the most common. This case is unique as the lesion developed not only in the scapula which has a 3% prevalence in LCH, but also had radiographic and MRI characteristics of a chondroblastoma more than the typical LCH lesion. Additionally, it was accompanied by a BRAF V600E mutation which is uncommon in LCHs bone cases.

Persistent Sciatic Artery with Peripheral Arterial Disease: A Case Report.

BACKGROUND: Persistent sciatic artery (PSA) is a congenital malformation due to incomplete involution during the embryonic period. Its etiology is unknown, with an estimated incidence of 0.02 - 0.04% in the whole population and a mean age of 60-65 years. Its presentation can be bilateral. It is asymptomatic in most cases and is usually detected accidentally; however, some symptoms may appear, such as claudication, sciatic neuralgia, and pain in the affected limb. It can also manifest as an aneurysmal dilatation or thrombosis that can generate distal embolism with ischemia. CASE REPORT: In this case study, a patient in her 90s with a suspected peripheral arterial disease, which required an angiotomography of the lower limb, showing a superficial femoral artery running to the middle and distal third of the thigh and a vascular structure running in the sciatic neurovascular bundle corresponding to a persistent sciatic artery presenting atherosclerotic changes and extensive occlusion, was presented. The patient's treatment was clinical with dual antiplatelet therapy and prophylactic anticoagulation. This was due to comorbidities and age. Moreover, the PSA occlusion was not critical and did not significantly impact the patient's quality of life. CONCLUSION: Most patients with this anatomical variant are asymptomatic all their lives, but some of them may present symptoms with serious consequences. It is important to suspect it by clinical presentation and perform diagnostic confirmation by angiotomography. Treatment has yielded excellent results with endovascular techniques. Certain patients only require conservative treatment with anticoagulants and antiplatelet agents.

Multiple sclerosis with megacystic presentation: A case report.

Multiple sclerosis is a frequent condition where the diagnosis relies on clinical presentation, neurologic examination, cerebro spinal fluid markers, and diagnostic imaging tests; however, atypical variants of the disease can lead to misdiagnosis in some scenarios. Herein, we describe a case of a 24-year-old patient with multiple sclerosis with megacystic plaques, in which appropriate interpretation of the imaging findings lead to a proper diagnosis and treatment.

Clinical and CT patterns to predict EGFR mutation in patients with non-small cell lung cancer: A systematic literature review and meta-analysis.

PURPOSE: This study aims to determine if the presence of specific clinical and computed tomography (CT) patterns are associated with epidermal growth factor receptor (EGFR) mutation in patients with non-small cell lung cancer. METHODS: A systematic literature review and meta-analysis was carried out in 6 databases between January 2002 and July 2021. The relationship between clinical and CT patterns to detect EGFR mutation was measured and pooled using odds ratios (OR). These results were used to build several mathematical models to predict EGFR mutation. RESULTS: 34 retrospective diagnostic accuracy studies met the inclusion and exclusion criteria. The results showed that ground-glass opacities (GGO) have an OR of 1.86 (95%CI 1.34 -2.57), air bronchogram OR 1.60 (95%CI 1.38 - 1.85), vascular convergence OR 1.39 (95%CI 1.12 - 1.74), pleural retraction OR 1.99 (95%CI 1.72 - 2.31), spiculation OR 1.42 (95%CI 1.19 - 1.70), cavitation OR 0.70 (95%CI 0.57 - 0.86), early disease stage OR 1.58 (95%CI 1.14 - 2.18), non-smoker status OR 2.79 (95%CI 2.34 - 3.31), female gender OR 2.33 (95%CI 1.97 - 2.75). A mathematical model was built, including all clinical and CT patterns assessed, showing an area under the curve (AUC) of 0.81. CONCLUSIONS: GGO, air bronchogram, vascular convergence, pleural retraction, spiculated margins, early disease stage, female gender, and non-smoking status are significant risk factors for EGFR mutation. At the same time, cavitation is a protective factor for EGFR mutation. The mathematical model built acts as a good predictor for EGFR mutation in patients with lung adenocarcinoma.