CD40LG-associated X-linked Hyper-IgM Syndrome (XHIGM) with pulmonary alveolar proteinosis: a case report.

BACKGROUND: D40LG-associated X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis has rarely been reported, and its genotype-phenotypic correlation remains elusive. CASE PRESENTATION: We describe a five-month-old boy with CD40LG mutation (c.516T > A, p.Tyr172Ter) X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis as the first manifestation. The patient completely recovered after immunotherapy and allogeneic hematopoietic stem cell transplantation. In addition, four previously reported patients with CD40LG mutation with pulmonary alveolar proteinosis were also analyzed. All of these patients presented with early onset of pulmonary infections and a good response to immunotherapy. The structural model of CD40LG indicated that all mutations caused the X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis to be located within the tumor necrosis factor homology domain. CONCLUSIONS: A case was presented, and the characteristics of four cases of CD40LG-associated X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis were summarized. The variant locations may explain the phenotypic heterogeneity of patients with the CD40LG mutation.

Angiomyolipoma of the left adrenal gland: a case report and literature review.

Angiomyolipoma (AML) is apparent a part of mesenchymal tumor arising from perivascular epithelioid cell origin. AML is formed of blood vessels, spindle and epithelioid cells, and mature adipocytes. Adrenal AML is very rare. Indeed, only 21 cases of adrenal AML have been reported in the English-language literature. In these cases, patients were usually asymptomatic, and AML was often examined passingly during a health checkup or a common abdominal ultrasound (US) or a computed tomography (CT) examination for a other unrelated disease. This is a case report of adrenal AML in a 40-year-old male who presented with no clinical manifestations. Some 3 months ago, a first abdominal routine CT scan revealed a left adrenal mass. Three months later, a routine US showed a hypoechoic area of 21 mm × 15 mm in the left adrenal gland. A retroperitoneoscopic resection of the left adrenal gland tumor was then performed. A postoperative histopathology report confirmed a benign AML composed of blood vessels, smooth muscle, and mature adipose tissue. The patient was discharged without event. Due to the paucity of the literature on this subject, more clinical and imaging information about this disease is necessary for diagnosis, differential diagnosis, and treatment. In this paper, we present a complete case report, including the clinical presentation, imaging, treatment, and conduct a review of the relevant literature.

EUS in the diagnosis of pathologically undiagnosed esophageal tuberculosis.

BACKGROUND: Esophageal tuberculosis (ET) is relatively rare, and the diagnosis is challenging. The aim of this study was to evaluate the clinical features of ET and highlight the role of endoscopic ultrasonography (EUS) in the diagnosis of pathologically undiagnosed ET. METHODS: We retrospectively analysed the clinical features, radiological performances, conventional endoscopic appearances, EUS features, treatment and outcomes of pathologically undiagnosed ET between January 2011 and December 2018. All 9 patients failed to be diagnosed by at least two repeated biopsies (such as routine biopsy, multipoint or deep biopsy, and even or EUS-guided fine-needle aspiration (EUS-FNA)). RESULTS: Nine patients (66.7% female) with a mean age of 45 years (range 29-59) complained of retrosternal pain or discomfort, or (and) dysphagia. Esophagoscopy demonstrated protruding lesions in the mucosa with central ulcers or erosion in five patients, submucosal bulges with smooth surfaces in one patient, submucosal bulges with diverticula in one patient, ulcers with suspicious fistula formation in one patient, and multiple ulcers in one patient. None of the patients received confirmed histopathological or bacteriological diagnoses by repeated biopsies. However, they were first suspected to have ET based on EUS examination. Because EUS found some characteristic ultrasonographic changes, which were very helpful for the diagnosis of ET when combined with clinical manifestations, the patients subsequently received diagnostic antituberculosis therapy. Finally, the patients recovered or improved with follow-up times ranging from 3 to 10 months. CONCLUSIONS: EUS could help in the diagnosis of ET on basis of EUS features like poorly defined esophageal wall structure, enlarged paraesophageal or mediastinal lymph nodes, hypoechoic lesions of esophageal wall that are linked to the enlarged paraesophageal lymph nodes. However all attempts should be made to obtain histological or microbiological diagnosis.

Advanced primary amelanotic malignant melanoma of the esophagus: A case report.

BACKGROUND: Primary malignant melanoma of the esophagus accounts for 0.1%-0.2% of all esophageal malignancies, including melanotic and amelanotic melanomas. Primary amelanotic malignant melanoma of the esophagus is extremely rare, and only about 20 cases have been published in the literature to date. Most primary malignant melanomas of the esophagus are diagnosed following development of metastatic lesions and thus have a very poor prognosis. The median survival duration of patients with metastatic melanoma has been reported to be 6.2 mo. CASE SUMMARY: A 49-year-old woman was referred to our hospital with a diagnosis of esophageal cancer. Endoscopy, biopsy, imaging evaluation, and physical examination at our hospital indicated a diagnosis of advanced primary amelanotic malignant melanoma of the esophagus. Immunohistochemical staining confirmed melanoma. Nuclear medicine examination revealed a left iliac bone metastatic lesion. After discharge, the patient self-administered apatinib for 3 mo, followed by oral treatment with Chinese medicines (also self-administered) for 2 mo. No treatments had been taken since then. The patient has survived with no growth out to the most recent follow-up (24 mo post diagnosis), and she always presented with a positive attitude about her condition during this period. CONCLUSION: Survival following metastatic melanoma might be related to the pharmaceutical and Chinese medicine treatment and the patient's positive attitude.

CT and MRI of adrenal gland pathologies.

Besides ultrasound and nuclear medicine techniques, computed tomography (CT) and magnetic resonance imaging (MRI) are commonly used to examine adrenal lesions in both symptomatic and asymptomatic patients. Some adrenal lesions have characteristic radiological features. If an adrenal nodule is discovered incidentally, determining whether the lesion is benign or malignant is of great importance. According to their biological behavior, lesions can be divided into benign (mainly: adenoma, hyperplasia, pheochromocytoma, cyst, hemorrhage, cystic lymphangioma, myelolipoma, hemangioma, ganglioneuroma, teratoma) and malignant (mainly: metastases, adrenal cortical carcinoma, neuroblastoma, lymphoma) conditions. In this paper, we review CT/MRI findings of common adrenal gland lesions.