Diagnosed with primary adrenal insufficiency? search adrenoleukodystrophy-two brothers presented with similar phenotype

X-linked adrenoleukodystrophy (X-ALD) is a genetic disease with a variety of phenotypic expression. This is the first case report of X-AMN/ALD in two brothers in Bangladesh confirmed by raised VLCFA. Our index patient of 19 years presented on 2014 with adrenal insufficiency, after one year developed progressive spastic paraparesis along with cognitive declination and behavioral abnormality. His only brother was clinically asymptomatic at presentation with Addison’s disease and extensor planter reflexes. After three years of follow up, index patient became bed bound with slurred speech, urinary urge incontinence and his brother developed spastic paraparesis with cognitive impairment. None had gonadal impairment. Follow up MRI after three years revealed lesion in brainstem in both along with atrophy of thoracic segment of spinal cord in index patient and cerebellum, internal capsule involvement in his brother. Both were of pure AMN variety but due to presence of cognitive impairment and behavioral abnormality they can be categorized as cerebral variety of AMN. On 2023, our index patient is still surviving with major functional disability and his brother died on 2019, 5 years of initial diagnosis.

A Rare Case Report on Benign Recurrent Intrahepatic Cholestasis.

Benign recurrent intrahepatic cholestasis is an inherited and occasionally sporadic disease presents as recurrent episodes of obstructive jaundice without any obstruction in billiary channel with intervening symptom free periods. Here we are presenting a case of 20-year-old male with a recurrent jaundice and pruritus who later diagnose as BRIC.

Association of Left Atrial Spontaneous Echocardiographic Contrast with Inflammatory Markers in Mitral Stenosis Patients.

Background: Spontaneous echocardiographic contrast (SEC) is a risk factor for left atrial thrombus formation and an important indicator of potential systemic embolism originated from heart. An established relation exists between the inflammatory status and the prothrombotic state. The present study was conducted to evaluate the association between left atrial spontaneous echocardiographic contrast with inflammatory markers in mitral stenosis patients. Methods: This observational analytical study was undertaken in the department of Cardiology, National Institute of Cardiovascular diseases (NICVD), Dhaka. A total of 70 patients with mitral stenosis were categorized into two groups: group I with left atrial SEC and group II without left atrial SEC. All patients underwent transthoracic as well as transoesophageal echocardiography. Complete blood count with ESR was done and neutrophil lymphocyte ratio was calculated. The high sensitive C-reactive protein (hs-CRP) was assayed. Results: The hs-CRP levels were significantly greater in the SEC-positive group (5.6±2.1vs 1.5±0.7, p=0.001). The mean ESR level was significantly greater in the SEC-positive group (32.6±15.5 mmvs15.8±4.7 mm).The neutrophil levels ((76.1±1.9 vs 63.7±3.3) were significantly greater in the SEC-positive group, and the lymphocyte levels (33.3±3.0 vs 21.5±1.3) were significantly greater in the SEC-negative group (p=0.001 for each). The neutrophil/lymphocyte (N/L) ratio was also significantly greater in the SEC-positive group (3.4±0.4 vs2.1±0.6, p=0.001).On multivariate analysis hs-CRP, neutrophil/lymphocyte ratio, raised ESR, mitral valve area and left atrial diameter were independent risk factors for SEC in patients with mitral stenosis. Conclusion: From this study it may be concluded that left atrial SEC is associated with raised inflammatory markers in majority of patients with mitral stenosis. So, SEC may be considered as a reflection of ongoing inflammatory process in patients with mitral stenosis.

Isolated Protein S Deficiency –Cause of Recurrent Stent Thrombosis-A Case Report.

Stent thrombosis (ST) is one of the major complications that occur in percutaneous coronary interventions (PCIs) with stents. Various factors have been attributed to the development of ST, and several strategies have been recommended for its management. Protein C or protein S deficiencies may uncommonly be responsible for coronary arterial thrombosis. We report a young woman with recurrent stent thrombosis due to the deficiency of protein S. After coronary stenting, stent thrombosis occurred two times despite aggressive medical therapy. This report suggests that the deficiency of protein C or S should be born in mind in a young patient with recurrent thrombotic events, and that anticoagulants in addition to antiplatelet agents considered in the presence of their deficiency.

Early Outcome of Laparoscopic Abdominoperineal Resection, Our Experience in Bangabandhu Sheikh Mujib Medical University.

Anorectal malignancies that require abdominoperineal resection (APR) is very common. Laparoscopic APR can be a better option. Laparoscopic APR has been seldom studied. This study aims to evaluate perioperative and early postoperative outcomes of laparoscopic APRs performed for the treatment of ano-rectal carcinomas. Patients operated for ano-rectal carcinoma between June 2011 to June 2013 in Bangabandhu Sheikh Mujib Medical University (BSMMU) were observed. Demographics, tumor and procedure-related parameters, perioperative results, early postoperative outcomes and survival were observed. Total 22 patients were under went laparoscopic APR. Male: Female ratio was 15:7 (68.18%: 31.82%). Age range was from 30-65 years with a mean age of 36.55 years. Mean operation time was 165 minutes and mean post-operative hospital stay was 6.8 days. Overall complication rate was 45.45%. Laparoscopic APR is a safe, effective and technically feasible procedure. It can be a better operative procedure than open APR.