Abhyuday Kumar Yadav

Klinefelter syndrome (KS) is the most common chromosomal condition affecting males, usually caused by the presence of an extra X chromosome (47, XXY). However, it often remains undiagnosed until adulthood. We report a unique case of a 24-year-old man whose primary concern was persistent nausea and vomiting, an atypical presenting complaint of Klinefelter syndrome. Further evaluation revealed typical features of KS, including infertility despite normal sexual desire, gradual enlargement of the breasts, tall stature, sparse facial and body hair, small testes, and learning difficulties. An uncommon finding in the patient was premature loss of dentition. Hormonal tests showed low testosterone levels with elevated gonadotropins and estradiol, consistent with primary hypogonadism, and karyotype analysis confirmed the diagnosis. This case highlights the wide spectrum of clinical features associated with Klinefelter syndrome, including both typical and atypical manifestations. This report emphasizes the need for increased awareness of such unusual presentations, for early diagnosis, and a multidisciplinary approach to management that can improve physical health, psychological well-being, and overall quality of life.

Introduction and importance: Williams–Campbell syndrome (WCS) is a rare congenital syndrome that can lead to bronchiectasis. Although commonly found in pediatric age groups, it can also be seen in adults due to delayed diagnosis with respiratory symptoms of cough, sputum, and wheezing. Presentation of case: A 31-year-old male presented with an incidental finding of bilateral cystic lesions in the lung field for which high-resolution computed tomography of the chest was done, which showed bilateral multiple cystic lesions without any clinical findings except mild inspiratory wheeze. Clinical discussion: Diagnosis: Any suspected case of bronchiectasis must undergo imaging: chest radiograph or computed tomography scan, along with blood investigations, sputum tests, and, if needed, a biopsy to help establish a diagnosis. Diagnosis of WCS is made after exclusion of common causes, which can be cystic fibrosis, foreign body aspiration, tuberculosis, COPD, and congenital causes like bronchomalacia, Mounier–Kuhn syndrome, tracheoesophageal fistula, etc. Therapeutic intervention: Chest physiotherapy, antibiotic therapy, vaccination, and pulmonary rehabilitation are primary modes of treatment. En bloc lung transplantation can be done in some cases. Conclusion: Diagnosis is made by ruling out all other causes of bronchiectasis, but a dynamic CT scan confirms the diagnosis. Chest physiotherapy and antibiotics are the treatment of choice.

Introduction: Silicosis is a type of diffuse interstitial lung disease caused by inhalation of crystalline silicon dioxide. The number of silicosis cases have been rapidly increasing over the years. Complete cure is not possible so early diagnosis and prevention is required. Case presentation: Our patient came with chief complaints of productive cough, breathlessness progressing to MRC grade 4 and fever. He worked in a flour mill for 15 years and has been symptomatic for the past 4-5 years. Chest examination showed tracheal deviation to the right, bilateral decreased breath sounds and fine crepitations. Chest X ray showed multiple tiny nodular opacities in all lung zones. Pulmonary function test confirmed restrictive lung disease. On CT scan, miliary mottled densities were noted bilaterally along with fibrosis in upper lobes and ground glass appearance in lower lobes. Echocardiography revealed mild pericardial effusion and Abdominal Ultrasound revealed coarse liver texture, splenomegaly and right sided pleural effusion. Patient was also Hepatitis B positive.Patient was treated with Prednisolone, Entecavir, Moxaclav along with symptomatic management. Discussion: Male gender, HIV infection, Smoking, Occupation, Age at first exposure, Duration of exposure and Concentration of inhaled silica dust are the risk factors of silicosis. Individuals with Silicosis are at high risk of developing Tuberculosis and Hepatitis B infection. Pulmonary function test, HRCT and Lung biopsies help in diagnosis of Silicosis. Serological markers and Liver Function Test helps in diagnosis of Hepatitis B infection. Early diagnosis and prevention is essential for better prognosis and Lung transplant is the only definitive management. Complications like progressive fibrosis, infections, cor pulmonale and pneumothorax may result due to Silicosis. Conclusion: Silicosis is a rare chronic inflammatory condition which leads to an immunosuppressed state and may predispose individuals to opportunistic conditions like Hepatitis B. Therefore, early identification of risk factors and clinical features is required.

Introduction: Pernicious Anaemia is a rare autoimmune disorder prevalent among 0.1% of the general population and is characterised by decreased cobalamin absorption. This condition is overlooked because of its rarity, insidious onset of non-specific symptoms and clinically asymptomatic state. Elevated serum intrinsic factor antibody level along with reduced Vitamin B12 level confirms the diagnosis. Case presentation: Pallor and abdominal tenderness was present. Haematological investigations showed elevated platelet count, elevated Mean Cell Volume reduced haemoglobin level(11.4 g/dl), reduced Vitamin B12 and high serum intrinsic factor antibody level. Serum parietal cell antibody was positive. The patient responded well to parenteral Vitamin B12. Discussion: In Pernicious anaemia, serum intrinsic factor antibody and parietal cell antibody are high which are responsible for reduced Vitamin B12 absorption. Studies have also shown positive correlation between H pylori and Pernicious Anaemia. Neurological symptoms are less common but may present as paraesthesia, changes in gait or spasticity due to peripheral neuropathy. It is also associated with autoimmune diseases. Untreated pernicious anaemia can lead to neurological and gastrointestinal complications. Conclusion: Pernicious Anaemia is an overlooked condition because of its insidious onset of non-specific symptoms, clinically asymptomatic state, rarity and therefore timely diagnosis of Pernicious Anaemia still remains a challenge. HIGHLIGHTS Presentation of a case of Pernicious Anaemia that is uncommon in the Asian population. Incidence correlated with Helicobacter pylori infection. Presence of autoantibodies against both intrinsic factors and parietal cells specific to the disease. Disease entity requiring correction by replacement with parenteral or oral Vitamin B12.

Cervical rib is a rare anatomical anomaly with an incidence of 0.2%–1% and is an important cause of thoracic outlet syndrome. We present a case series of five female patients with a mean age of 20.6 (15–26) years, symptoms present were neck pain, neck mass, tingling sensation and weakness in the affected side. Symptoms develop in adolescence probably due to sagging of the shoulders and a disproportion between chest and neck growth at this age. X-rays of cervical spine was a common mode of diagnosis and showed bilateral cervical rib in three cases and unilateral in two cases. They were managed by performing surgeries under supraclavicular approach with resection of cervical rib of affected side. There was improvement of symptoms with restoration of limb function with a mean time of recovery of 9 weeks. Early diagnosis is important as differential diagnosis of such symptoms may be cervical stenosis and myelopathy which differ in management and have a greater risk of morbidity. In absence of intervention, cervical ribs can lead to compression of neurovascular structures leading to worsening of symptoms, thrombosis of subclavian artery or cerebral emboli.