Infantile myofibromatosis - presentation of a rare cause of ileus in an infant

Abstract Introduction Infantile myofibromatosis is the most common benign fibrous tumor in young children with an incidence of 1/150000 births and occurs as tumours in the skin/subcutaneous, skeletal, intracranial or visceral tissues. The disease does not metastasize, but aggressive forms, especially where there is local growth or in patients with visceral involvement, can cause severe morbidity and mortality. Tumors often regress but is sometimes treated with surgery and cytostatics. Method We report of a case of ileus caused by infantile myofiromatosis. Result Girl born at 36+1 wk with antenatally suspected high intestinal obstruction. Postpartum x-ray showed suspected duodenal obstruction which prompted laparotomy. It was found that the patient had total obstruction of the small intestine just below the Treitz ligament and multiple palpable resistances in the intestinal wall along the small and large bowels. Total obstructions were present at a total of 9 levels which were treated with resections and direct anastomoses. The majority of further minor resistances were left without action. During the hospital stay, a whole-body MRI was also performed, where some solitary muscular and subcutaneous myofibromas were found. Genetic analysis of intestinal preparations showed mutation in the PDGFRB gene. No abnormalities were detected in blood tests and the assessment so far is that it is a sporadic mutation. Discussion Infantile myofibromatosis is an uncommon cause of intestinal obstruction. It is important to know that genetic analysis should be performed and that MRI should be done early. Close collaboration with an oncologist to set up a follow-up program is of great value.