Currarino syndrome

Abstract

Background: A presacral tumor (PT) is a rare, congenital abnormality. PTs may present similarly to Hirschsprung disease (HD) in early infancy. Through this case report, we share our experiences regarding patients with a PT mimicking HD. Materials and Methods: The medical records of patients with a PT at our hospital were retrospectively reviewed. The parameters investigated included age, sex, presentation, imaging findings, operation procedures, pathology, and bowel and bladder function outcomes. Results: Three patients who were aged 38, 15, and 1.5 years at the latest follow-up were identified. All patients were initially diagnosed with HD; of these patients, one had concomitant anal stenosis. The patients individually received abdominal Duhamel, abdominal Soave, and transanal Soave procedures. PTs were incidentally found after pull-through through a laparotomy in two patients and imaged in one patient. All patients had sacral bone defects that were evident on plain radiographs. The PTs in two cases were separately excised through laparotomy and the posterior approach. Postoperative bowel dysfunction was noted in all patients and was treated with permanent colostomy and regular enemas and laxatives. Two of the three patients developed neuropathic bladders and subsequent upper urinary tract injury. Sexual dysfunction was noted in the adult patient. Conclusions: PTs may mimic HD, delaying their diagnosis. Sacral dysgenesis evident on plain radiographs is the key to early detection. Long-term surveillance is imperative.