Klippel-Feil syndrome presenting as recurrent abdominal pain in a teenager: importance of computed tomography scan in diagnostic workup

Abstract

Klippel-Feil syndrome (KFS) is a segmentation and cleavage malformation of the cervical spine in the early weeks of foetal development. This is considered as a sporadic genetic abnormality, and is accompanied by multisystem disorders such as a short neck, cardiac disease, renal ectopia and other associated genitourinary syndromes. In this case report, we present the clinical and radiological findings of a 14-year old school boy who was referred to us from a private hospital for abdominopelvic ultrasound to ascertain his cause of recurrent abdominal pains since childhood. We also present the role of computed tomography in detecting multisystem
abnormalities during a single hospital visit.

Keywords: Recurrent abdominal pains, renal ectopia, multiple cervicothoracic vertebral fusions, Sprengel's scapulae