Arnab Saha

Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis and lysosomal deposition of ceroid lipofuscin pigment. Interstitial lung disease may also accompany with the disease. Cases are mainly found among individuals with Puerto Rican ancestry. It develops due to defects in the biogenesis and/or function of lysosome-related organelles essential to membrane and protein trafficking. A 30-year-old Hindu male patient with oculocutaneous albinism, strabismus, nystagmus and severe dimness of vision presented to us for severe shortness of breath. Subsequent investigations revealed he had HPS with an advanced stage of pulmonary fibrosis.

Bilateral pleural effusion with APLA positivity in a case of rhupus syndrome

Rhupus syndrome is a rare syndrome characterized by overlap of rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). Our patient was a diagnosed case of RA and developed SLE 2 years after. She was a middle-aged woman, presented with bilateral pleural effusion with exacerbation of skin and joint symptoms of SLE. We diagnosed the case as tubercular pleural effusion by positive Mycobacterium tuberculosis in bactec 460 culture. She had also anti-phospholipid antibody positivity without any symptoms and signs of thrombosis.

A study of correlation between body mass index and GOLD staging of chronic obstructive pulmonary disease patients

Background: The association between low body mass index (BMI) and poor prognosis of patients with chronic obstructive pulmonary disease (COPD) is a common clinical observation and it varies with different stages of COPD. Aims: To find out any correlation between BMI and severity of obstruction (Global Initiative for Chronic Obstructive Lung Disease (GOLD) staging) of COPD patients. Settings and Design: We conducted a cross-sectional, observational study among 101 male patients of COPD, attending the chest medicine department in our medical college during the period from March 2011 to February 2012. Materials and Methods: We classify the severity of obstruction in COPD patients according to GOLD staging through spirometry. BMI of all the patients was measured. Correlation between BMI and severity of obstruction (post bronchodilator forced expiratory volume in 1 st second (FEV 1 ) % predicted) in COPD patients was determined. Statistical Analysis: Analysis was carried out using Statistical Package for Social Sciences (SPSS) 20.0 software for windows. Pearson correlation, one way analysis of variance (ANOVA) analysis and post hoc Turkey test were used to determine the relationship between BMI and post bronchodilator FEV 1 %predicted. Results: Mean age of the study subject was 58.18 ± 9.29 years. Commonest age group was 50-59 years (40%). Mean BMI of stage 1 COPD subjects was 26.21, stage 2 was 22.91, stage 3 was 20.78, and stage 4 was 15.71. One-way ANOVA showed that BMI of the patients were decreasing with increasing severity of the disease (GOLD) and it was statistically significant (P < 0.05). The post hoc Turkey test also indicated that there were significant differences present in different GOLD stages of COPD in respect to BMI. Conclusion: There was positive correlation between severity of airway obstruction and BMI in COPD patients.

Adenocarcinoma of the lung presenting as retinal detachment

Retinal detachment is a rare presentation of lung cancer. A young female presented with blurring of vision in her right eye for the last 10 days without any history of trauma. On indirect ophthalmoscopy, there was a presence of right sided retinal detachment which was treated with oral prednisolone (60 mg/day). After 1 month of continuous treatment, she came back with dry cough left sided chest pain and deterioration of her eye symptoms. Chest X-ray showed left lung mass. Computed tomography guided fine needle aspiration cytology and with immunohistochemistry confirmed adenocarcinoma of the lung. She was treated with 6 cycles of chemotherapy with paclitaxel and gemcitabine.

Primary nasal tuberculosis following blunt trauma nose

Primary nasal tuberculosis is a rare disease with nearly 40 cases reported. Our patient was a young male presented with left sided nasal obstruction, anosmia and occasional epistaxis for last 7 weeks after 6 months of blunt trauma nose. Contrast enhanced computed tomography of the para nasal sinuses showed increased soft-tissue density with contrast enhancement in the left maxillary antrum with extension through left osteomeatal foramen to the left nasal cavity along with further extension through choana to nasopharynx resulting in partial obliteration of the nasopharyngeal airway. Nasal endoscopy revealed a sessile polypoidal pinkish mass arising from the left osteomeatal foramen. Histopathological examination of excisional biopsy of that area showed caseating granuloma. Our patient diagnosed as primary nasal tuberculosis following trauma and treated with anti-tubercular chemotherapy.

Poland syndrome with absent ribs

Poland syndrome is a rare congenital disorder characterized by ipsilateral absence of pectoralis major muscle. This syndrome is associated with various anomalies such as ipsilateral syndactyly, brachidactyly, dextrocardia, herniation of lung, underdevelopment of upper ribs, aplasia or hypoplasia of breast, etc. Only few cases had been reported with absent ribs in Poland syndrome. We report a rare case of Poland syndrome presented to us with mal-development of his right hemithorax and weakness of right hand.

Atypical Nonne-Milroy syndrome: Complicated with chylous effusion

Nonne-Milroy syndrome is a rare primary lymphedema characterized by firm non-pitting edema of the lower extremities of the whole leg or may be limited to the feet or toes since birth or infancy. We are reporting a 51-year-old male who presented with dry cough for the previous 7 months and dyspnea for the previous 4 months due to bilateral chylous effusion and that was associated with firm edema of the lower extremities, was waxing and waning since birth. Duplex ultrasound of the lower limbs showed patent blood vessels. Lymphoscintigraphy demonstrated aplasia of the lymphatics in both lower limbs. The patient was diagnosed as primary lymphedema or Nonne-Milroy syndrome after excluding other congenital causes of primary edema. He was treated by bilateral pleurodesis with tetracycline for his chylous effusion and no recurrence was observed after 1 year of follow-up.

Pericardial calcification following blunt trauma

A 50-year-male presented with persistent, progressive shortness of breath for last 1 year along with swelling of abdomen for last 1 month. Physical examination revealed increased jugular venous pressure (14 cm of water), ascites along with presence of Kussmaul sign and pericardial knock. Clinically, a diagnosis of constrictive pericarditis (CP) was made. He denied any past history of tuberculosis or any other infective etiology. Past medical history revealed history of trauma in past childhood. Chest X-ray revealed a predominant circumferential calcification along the left border of the heart [Figure 1]. Doppler echocardiography showed evidence of CP with thick calcified pericardium. End diastolic pressure of all four chambers was also found to be equal. A diagnosis of CP due to trauma was made. Pericardial calcification is usually preceded by pericarditis or trauma. The most common causes of pericardial calcification are chronic idiopathic pericarditis, post-cardiac surgery, mediastinal irradiation, and tuberculous pericarditis. [1] Both blunt