ABSTRACT
Introduction and importance: Edward syndrome is a severe chromosomal defect that occurs as a result of non-disjunction through meiosis. It presents with cardiac septal defects, horseshoe kidneys, patent ductus arteriosus, central nervous system dysgenesis, distinctive craniofacial deformities, and overriding or overlapping fingers. Klinefelter syndrome (47, XXY) is found in 1 in 660 newborn males. It is considered to be one of the most common genetic causes of infertility. It manifests with small firm testes, androgen insufficiency, and azoospermia. Case presentation: A 2-month-old male infant with a history of weakness in feeding, frequent convulsions, and an increase in cyanosis two days ago. There were multiple skeletal deformities and a tendency to spasm in the extremities, left ventricular atrophy, mitral atresia, atrial septal defect, ventricular septal defect with dilated right cavities, tricuspid valve regurgitation, pulmonary valve stenosis; and the aorta exits in the right ventricle. There is a widening of the subdural space, which was observed in the left frontal-parietal side with cortical atrophy in that area and a widening of the Sylvian fissure. A karyotype test confirmed the presence of Edward and Klinefelter syndromes. Clinical discussion: Aneuploidy is a chromosomal issue characterized by an abnormal number of a chromosome copies. The coexistence of two aneuploidies is called "double aneuploidy" which is a rare occurrence. Herein, we report a case of a 2-month-old male with Edward syndrome and Klinefelter syndrome. Conclusion: This publication aims to highlight the challenges in diagnosing and treating a complicated genetic disease.
ABSTRACT
Background: Congenital mesoblastic nephroma is the most common renal tumor in children under the age of 6 months, comprising 3-10% of all kidney tumors in children. It is a rare and mostly benign tumor. It divides into cellular, classic, and mixed subtypes. It is typically detected in the third trimester of pregnancy using ultrasonography and magnetic resonance imaging. The best treatment is surgically by completely removing the tumor. Case presentation: We reported a case of a one-day-old female who was born at 31 weeks gestation weighing 1670 g. Preterm labor was due to polyhydramnios, which was diagnosed predelivery. A large mass was detected in the left hypochondrium using computerized tomography, total nephrectomy was performed, and the histopathological examination of the specimen confirmed the diagnosis of congenital mesoblastic nephroma. Clinical discussion and conclusion: Early polyhydramnios could be the most significant sign of renal tumors in infants, especially congenital mesoblastic nephroma.