No abstract

Restrictive cardiomyopathy (RCM) is a rare disease in children, accounting for <5% of all pediatric cardiomyopathies. It may be idiopathic or may be a secondary to a systemic disease. The disease is characterized by normal systolic function with impaired ventricular filling caused by stiff ventricular walls. Children with RCM often present with symptoms of exercise intolerance, shortness of breath, weakness, and chest discomfort. Thromboembolism events are an unusual presentation of RCM. We are reporting a preadolescent female from the eastern province of Saudi Arabia who presented with sudden right lower limb swelling, paresthesia, and pain caused by a complete occlusion of the terminal part of the abdominal aorta and both common iliac arteries. Echocardiography revealed dilated atria, normal ventricle dimensions and two floating thrombi in the left atrium. The patient was successfully managed with an anticoagulant, surgical thrombectomy and cardiac transplantation.

Jejunoileal atresia (JIA) is one of the common etiologies of intestinal obtrusion in neonates. However, cases of concomitant ileal atresia and Hirschsprung disease (HD) rarely occur. We report the case of a male infant who had JIA concomitantly with HD that was re-anastomosed. The patient underwent an exploratory laparotomy to resect the dilated terminal ileum. Subsequently, owing to a significantly dilated proximal bowel, he underwent a second exploratory laparotomy. However, he continued to have feeding intolerance postoperatively. He had colonic aganglionosis and was diagnosed with HD. A third laparotomy was then performed. Additionally, he had recurrent episodes of gram-negative bacteremia, especially candida parapsilosis fungemia, despite receiving antibiotics and antifungal, and there were no identifiable underlying genetic or immunological causes. Finally, the patient had recurrent episodes of hypoglycemia, central hypothyroidism, and multiple organ failure and died at the age of 7 months. The concomitant ileal atresia and HD was thought to be due to a common intrauterine vascular accident, together with loss of bowel, thereby acting as a barrier for the caudal migration of neuromeric cells and leading to colonic aganglionosis. In this case, ileal atresia was associated with colonic aganglionosis, central hypothyroidism, and persistent bacteremia, which is a unique finding. In cases of JIA, persistent poor bowel function after surgical correction of concomitant HD should be considered.