Presacral tailgut cyst with complex perianal fistula: A case report and a brief review of the literature

Tailgut cysts (TGCs) are rare congenital cystic lesions that pose diagnostic challenges due to varied manifestations, anatomic locations and a tendency to mimic or associate with other anorectal or pelvic pathologies. The present case report describes a challenging case of TGC associated with a complex perianal fistula. A 41‑year‑old female patient presented with painful defecation. A digital rectal examination revealed a deep, soft, ill‑defined fullness palpable in the presacral region. There were no palpable masses, secondary tracts, abscess cavities, or signs of purulent discharge. Magnetic resonance imaging revealed a multiloculated cystic lesion in the presacral region associated with a complex perianal fistula. The cyst and its associated fistulous tract were removed by en bloc excision. A histopathological examination of the cyst confirmed a TGC. In addition, in reviewing 13 recently reported cases, the common clinical presentations included lower abdominal or pelvic pain and constipation, while approximately a quarter of the cases were incidentally found. Malignant transformation was documented in 5 cases, most commonly into adenocarcinoma, with metastases in 3 cases. Of the cases with malignant transformation, 3 cases succumbed to disease. All patients underwent surgical excision, with the open approach used most frequently (~76.9%). Outcomes were excellent among patients with benign lesions, with no recurrence during follow‑up, whereas those with malignant transformation had a poorer prognosis. TGCs may be associated with or masked by other perianal conditions, such as fistulas, necessitating proper investigation to avoid misdiagnosis or improper management.