Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology?
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چکیده
منابع مشابه
Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology?
INTRODUCTION Congenital lobar emphysema (CLE) and Williams-Beuren Syndrome are two rare conditions that have only been reported together in a single case study. CASE PRESENTATION We report another case of a male Caucasian newborn with nonspecific initial respiratory distress, with detection of CLE on repeat chest X-ray on Day 25 of life and concurrent ventricular septal defect, supravalvular ...
متن کاملCongenital Lobar Emphysema
Over the past four years (1360-1364) we have surgically treated seven infants for lobar emphysema. The pathologic lesion in all patients was in upper lobe of the left lung. Respiratory distress and pneumonia are the cardinal symptoms of patients with this abnormality. Diagnosis is confirmed by chest x-ray. The treatment of choice is lobectomy of affected lobe.
متن کاملCongenital Lobar Emphysema : a case Report
This case is a bout a neonate with respiratory distress and primary diagnosis of Pneumothorax who had Congenital Lobar Emphysema. This case was the basis to review the topic of Congenital Lobar Emphysema (CLE) and the corresponding literature, considering that this is an uncommon disease and although congenital lobar emphysema is rare, clinical awareness of this condition is important for early...
متن کاملWilliams-Beuren syndrome.
Copyright © 2010 Massachusetts Medical Society. Williams–Beuren syndrome (also known as Williams’ syndrome; Online Mendelian Inheritance in Man [OMIM] number, 194050), a multi system disorder, is caused by deletion of the Williams–Beuren syndrome chromosome region, spanning 1.5 million to 1.8 million base pairs and containing 26 to 28 genes. Exactly how gene loss leads to the characteristic ph...
متن کاملUnique association of congenital lobar emphysema with ventriculomegaly and encephalocele
Congenital lobar emphysema (CLE) is a rare developmental disorder characterized by over distension of pulmonary lobes or segments. Often CLE presents a diagnostic and therapeutic dilemma. Here, we report a case of incidentally found CLE at fetal autopsy of terminated pregnancy due to ventriculomegaly and occipital localized encephalocele detected on sonography in the second trimester. A 41year-...
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ژورنال
عنوان ژورنال: Case Reports in Pediatrics
سال: 2017
ISSN: 2090-6803,2090-6811
DOI: 10.1155/2017/3480980