Imperforate anus with rectopenile fistula: a case report and systematic review of the literature

BACKGROUND: Although anorectal malformations (ARMs) are frequently encountered, rare variants difficult to classify have been reported. METHODS: This study describes a patient with ARM and rectopenile fistula. The literature was reviewed systematically to assess the anatomical characteristics, clinical presentations and operations of this rare type of ARM. RESULTS: Eight patients were reported in the six included articles. In three patients, the fistula extended from the rectum to the anterior urethra without communication with the skin. In one patient, the fistula, located deep in corpus spongiosum, opened to the ventral aspect of the penis without communication with the urethra. In the remaining four patients, the fistula extended from the rectum to the cutaneous orifice in the ventral aspect of penis, with communication or a short common channel with the urethra. CONCLUSIONS: Imperforate anus with fistula extending into the penis is a rare variant of anorectal malformation. Unawareness of this lesion resulted in a delay of correct diagnosis and appropriate management. A thorough examination, including colonourethrography and fistulography, should be performed in all patients with a fistula opening in the ventral aspect of the penis.