shwaehman syndrome, next to cystic fibrosis, is the second cause of congenita! exocrine pancreatic insufficiency in children. it appears as steatorrhea, recurrent infections and hematologic abnormalities such as neutropenia, skeletal dysplasia and short stature. in this study, we reviewed 3 patients' histories. all of them showed cellular chemotaxic defect. one of them had been affected by neph...

Pediatric respiratory disease related to congenital and genetic etiologies are important topics found on the USMLE. Congenital disease to be aware of include Diaphragmatic hernias, congenital cystic adenomatoid malformation, surfactant deficiency, pediatric pulmonary hypoplasia, and bronchopulmonary dysplasia. Genetic disease to be aware of include cystic fibrosis, alpha 1 antitrypsin, and prim...

A 14-year-old was girl admitted to our hospital with a subcutaneous mass of the occipital head. The mass had grown for 6 years, after she had sustained a head injury at the age of 6, and was located directly under a previous wound. Skull X-ray Photograph (xp), computed tomography (CT), and magnetic resonance imaging (MRI) showed a bony defect and cystic changes in the skull corresponding to a s...

Key words Disease name and synonyms Definition/diagnostic criteria Epidemiology Clinical description Etiology Diagnostic methods Differential diagnosis Genetic counseling Antenatal diagnosis Management including treatment Prognosis Unresolved questions References Abstract The syndrome of Hypoparathyroidism, sensorineural deafness and renal disease (HDR syndrome) is an inherited condition. Patie...

In the developed world, atherosclerosis is by far the most common cause of renovascular disease. This normally develops at the renal artery ostium on the luminal surface of the aorta/proximal renal artery. The atheroma obstructs renal blood flow and leads to chronic renal ischaemia. Atheroma may account for >90% of cases in white vascular high-risk populations. Renal artery atheroma is commonly...

adenoid cystic carcinoma of the lung is a relatively rare, slow growing lung neoplasm. metastases outside the lung are uncommon. herein, we have reported the case of a patient who presented with a large mass in the right lower lobe of her lung. bronchial biopsy revealed features suggestive of adenoid cystic carcinoma of the lung with a predominant cribriform architecture. ct abdomen showed feat...

PATIENT Female, 21 FINAL DIAGNOSIS: Multicystic Dysplastic Kidney Disease complicated by pyelonephritis Symptoms: Left flank pain (CVAT) • dysuria • fever MEDICATION Levofloxacin Clinical Procedure: Dimercaptosuccinic acid scan • voiding cystouretrogram Specialty: Nephrology. OBJECTIVE Rare disease. BACKGROUND Multicystic dysplastic kidney (MCDK) is a renal dysplasia characterized by the ...

differential diagnosis a need when cystic profile lesions are found in the pancreas (1,2). And of course intraductal papillary mucinous neoplasm of the pancreas must be carefully assessed in the differential diagnosis of such lesions. For every finding that is cystic in nature a first step is always to tell tumors, whether benign or malignant, from non-neoplastic conditions. To consider a cysti...