Constipation and dilated bowel: Hirschsprung’s disease is not always the case

A case of a 2-month-old boy with constipation and a localized abdominal distension in the right abdomen and hypogastrium is presented. Plain radiograph, ultrasound exam as well as a barium enema were suggestive of Hirschsprung’s disease (HD) (ultrashort segment disease). Nevertheless, rectal suction biopsy was negative for neuronal abnormalities and unexpectedly on plain radiograph vertebral abnormalities were noticed. Subsequently magnetic resonance imaging of the spine and abdomen was performed, to evaluate possible spinal cord lesions and potential abnormalities of the perineal region musculature. A syringe throughout medullary cone was noted. The well-known issue, that the diagnosis of HD does not depend on the imaging (radiological) findings, was confirmed. The step-bystep diagnostic approach from the initial thought of ultrashort segment HD to the later imaging-based diagnosis of syringomyelia is discussed in this present paper.