Perianal Abscess and Fistula as an Uncommon Presentation of Retrorectal Cystic Hamartoma in Adolescence

Abstract

Retrorectal cystic hamartoma is a rare congenital entity, more commonly found in women between the ages of 40 and 60.

It may cause chronic and nonspecific symptoms such as a sensation of pelvic fullness, altered bowel habits, or dull pain. However, it is often asymptomatic and therefore diagnosed incidentally through imaging studies performed for unrelated reasons.

We report the case of a 17-year-old male patient presenting with a retrorectal cystic hamartoma that initially manifested as a perianal abscess. After urgent drainage of the abscess, the patient continued to experience residual postoperative discharge. A pelvic MRI was subsequently requested, revealing a retrorectal mass measuring 13 mm.

Preoperative biopsy is not recommended due to the risk of tumor seeding along the needle tract. Treatment is always surgical, with either an abdominal or perineal approach selected based on the lesion’s location.

Given the potential risk of malignancy and the typically nonspecific clinical presentation, early suspicion is essential to avoid diagnostic delays and ensure timely management, which can significantly impact patient prognosis.