Introduction: Intussusception is the most common abdominal emergency in early childhood, particularly in children younger than two years of age. Without treatment, it may cause venous and lymphatic congestion, resulting in intestinal edema, ischemia, perforation and peritonitis.
Hereditary Angioedema (HAE) is a rare autosomal dominant (AD) disease caused by C1 esterase inhibitor protein deficiency, resulting in release of vasoactive peptides. Clinical presentation of the disease includes episodes of angioedema of the face, larynx, lips, abdomen, or extremities.
Methods: An 11 months old girl, generally healthy, with a family history of HAE (father and older sister), presented to the emergency room with vomiting, diarrhea and refusal to eat, 3 days after a short febrile illness. Her physical examination and blood tests were unremarkable except for mild dehydration. An abdominal sonography (US) revealed two hyperechoic bowel loops with double lumen ("target sign") representing an ileo-ileal intussusception on right lower quadrant and ileocolic intussusceptions on left upper quadrant.
Results: Based on previous experience with the patient`s older sister, an attempt of conservative treatment with C1-Esterase inhibitor was performed. Follow up US performed 3 hours later, showed the same findings of RLQ and LUQ intussusceptions and an additional ileo-ileal intussusceptions in the mid abdominal region. An air enema was performed with successful reduction of the ileo-colic intussusception. Additional US, 5 hours later, showed only an ileo-ileal intussusception with spontaneous reduction during the examination.
Due to recurrence of episodes of restlessness, an additional dose of C1-Esterase inhibitor was given with no signs of intussusception on follow-up US.
Conclusions: We presented a case of multiple intussusceptions (both ileo-ileal and ileo-coloic) in an 11 months old girl with HAE, treated successfully with a combination of C1-Esterase inhibitor and air enema.
This case emphasizes the importance of recognizing underlying disease, although rare, in children with intussusception as it may have direct effect on treatment.
