Clinical spectrum of myasthenia gravis: An institute experience over 8 years from North East India.

Background: Myasthenia gravis (MG) is a neuromuscular junction disorder usually associated with a thymic lesion. Aims and Objective: To study the clinical, serological, and thymic pathology in patient of MG from this corner of the country. Material and Method: A retrospective study involving all myasthenia patients presenting to neurology and cardio-thoracic department from the year 2013 to 2020. The clinical findings, Osserman grade of severity, antibodies profile, computed scanning thorax findings and histopathology of the thymic lesion were noted and collected as data. Results: Thirty patients of MG were included with mean age of onset being 39.10 ± 15.77 years which included 22 females and eight males. Four patients had only ocular findings while 26 patients had generalized myasthenia with three patients of respiratory failure. Ach receptor antibodies were positive in 27 patients and negative in two patients. Anti-MUSK was positive in one out of five patients. Abnormal findings in CT thorax seen in 20 patients which included enlarged thymic gland in 11 patients, thymic hyperplasia in two patients, thymoma in four patients, and anterior mediastinal mass in three patients. Thymectomy was done in eighteen patients with thymoma as the most common histopathological findings seen in eight patients, follicular hyperplasia in five patients; other was thymic hyperplasia, thymic cyst, normal thymus gland, and features of sarcoidosis in one patient. Conclusion: MG is a treatable autoimmune disorder with a variety of clinical, radiological, and histopathological findings.

Metanephric Adenoma with cystic changes- An uncommon presentation of a rare tumor in a young adult.

Metanephric adenoma (MA) is a rare benign neoplasm of the kidney that is usually asymptomatic and incidentally diagnosed. MA usually present as a solid mass; however, a cystic presentation has been reported. The main differential diagnosis of MA is the epithelial predominant Wilms tumor (e-WT) and the solid variant of papillary renal cell carcinoma (pRCC). The presence of the BRAF gene mutation has recently been reported in 85% of MA, and less than 10% of cases of MA do not express this specific gene mutation. Herein we report a 22-year-old man who presented with back pain and abdominal discomfort with a renal mass on the computed tomographic scan. The diagnosis of metanephric adenoma was confirmed histopathologically. In our case, the tumor presented as a solid and cystic mass hence mimicking a papillary renal cell carcinoma. The VE1 protein, which correlates with BRAF gene mutation, did not show any significant expression. We want to highlight that MA can present as a cystic lesion that should be taken into account to avoid unnecessary radical nephrectomy. Also, we demonstrated that a subset of MA might not harbor the BRAF gene and, they are classified as the BRAF wild type MA.

Metanephric Adenoma with cystic changes- An uncommon presentation of a rare tumor in a young adult

Metanephric adenoma (MA) is a rare benign neoplasm of the kidney that is usually asymptomatic and incidentally diagnosed. MA usually present as a solid mass; however, a cystic presentation has been reported. The main differential diagnosis of MA is the epithelial predominant Wilms tumor (e-WT) and the solid variant of papillary renal cell carcinoma (pRCC). The presence of the BRAF gene mutation has recently been reported in 85% of MA, and less than 10% of cases of MA do not express this specific gene mutation. Herein we report a 22-year-old man who presented with back pain and abdominal discomfort with a renal mass on the computed tomographic scan. The diagnosis of metanephric adenoma was confirmed histopathologically. In our case, the tumor presented as a solid and cystic mass hence mimicking a papillary renal cell carcinoma. The VE1 protein, which correlates with BRAF gene mutation, did not show any significant expression. We want to highlight that MA can present as a cystic lesion that should be taken into account to avoid unnecessary radical nephrectomy. Also, we demonstrated that a subset of MA might not harbor the BRAF gene and, they are classified as the BRAF wild type MA.

Miliary tuberculosis with pulmonary and extrapulmonary component complicated with acute respiratory distress syndrome.

Miliary tuberculosis results from the lymphohematogenous spread of the tubercle bacilli to the vascular beds in the lungs and other organs. Diagnosis is made by clinical judgment and chest X-ray showing miliary mottling of the lung fields. Another imaging study like computed tomography imaging of the lungs and abdomen can also be supportive in diagnosing miliary tuberculosis. We present a case of miliary tuberculosis in an immunocompetent young male with atypical manifestation of a left-sided pleural effusion and a life-threatening complication of acute respiratory distress syndrome during hospital stay which required noninvasive mechanical ventilation and steroids therapy, along with antitubercular medication.

Segmental cystic renal disease: sonographic and CT findings.

Segmental cystic renal disease is a unique benign condition that requires no treatment. It can be confused on imaging, especially on sonography, with other more common cystic renal diseases and sometimes cystic malignancy. We report a case of segmental cystic renal disease with typical imaging features on sonography and CT for which nephrectomy was avoided.