Aljammal, Ghina

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 Struma ovarii comprises 1% of all ovarian tumors and 3% of ovarian teratomas. It occurs in older females. Struma ovarii is often asymptomatic, unilateral, and accidentally detected through abdominal ultrasound or computed tomography. It presents with palpable abdominal pain or irregular menstrual cycles. Generally, it is treated with surgical resection, even though the best procedure in these cases remains under discussion. In this study, we present a case of a 28-year-old female with severe pain in the right iliac fossa. Physical examination and radiological images showed a large mass. A bilateral salpingo-oophorectomy with omentectomy, a total mass resection, and an abdominal hysterectomy were performed. A biopsy confirmed the diagnosis of a follicular thyroid tumor. The management decision is based on clinical and pathological data. This is particularly challenging due to its rarity and the insufficient guidelines regarding the management of this type of cancer.