Chromosome 3q29 deletion with gastrointestinal malformation: a case report

<p>Abstract</p> <p>Introduction</p> <p>Most chromosome 3 deletions are associated with neuro-developmental and eye abnormalities. Here, we report a rare and unusual multiple congenital abnormality, including ano-rectal malformation, in conjunction with chromosome 3q29 segment deletion, which has not previously been reported.</p> <p>Case presentation</p> <p>A three-month-old female Jordanian baby presented with an absent anus and corneal opacities and was referred for further management after a diverting colostomy operation at the age of one day.</p> <p>Conclusion</p> <p>Chromosome 3q29 deletion is associated with additional abnormalities to neurological ones, such as ano-rectal malformations. We need to investigate a patient fully to find such hidden clinical features.</p

Inflammatory myofibroblastic tumor causing unexplained anemia in a toddler: a case report

Abstract Introduction Inflammatory myofibroblastic tumor is a very rare benign tumor in children that mimics malignant tumors in its aggressiveness locally and by the possibility of recurrence after surgical resection, and causing anemia of chronic disease, which is a decrease in hemoglobin 1 to 2 g/dL below normal level in a patient with chronic illness. Case presentation A 32-month-old boy from Libya presented with microcytic hypochromic anemia. He had been treated in three countries and five centers without response to medical therapy. He was investigated at our center and found to have a mass in the colon causing intermittent intussusception and bleeding. He was treated surgically, and his condition improved dramatically. The pathology report proved a diagnosis of inflammatory myofibroblastic tumor. Conclusion We report a case of an unusual tumor of the gastrointestinal tract causing chronic anemia not responding to medical treatment, and discuss the characteristics of inflammatory myofibroblastic tumor. In our case, we stress the involvement of a multidisciplinary team in treating such a patient who presents with common symptoms and signs but in whom there has been no response to any of the measures and treatment protocols.</p