Pediatric vaginal yolk sac tumor: A rare case report and diagnostic challenges

Yolk sac tumor (YST) is a rare germ cell malignancies that occasionally emerge in unexpected extragonadal sites, complicating early recognition and diagnosis. When arising in the vagina, YST may present with misleading symptoms and delayed recognition, given its rarity and concealed anatomical site.

We present a case of vaginal YST involving a one-year-old girl who presented with prolonged vaginal bleeding and urinary retention. Early radiologic assessment revealed a large pelvic lesion displacing pelvic structures, including the bladder and uterus. These findings initially misinterpreted as a uterine mass. Urethrocystoscopy, vaginoscopy and laparoscopy uncovered a friable, hemorrhagic mass occupying the vaginal canal and compressing adjacent organs. Histopathologic analysis confirmed YST, supported by characteristic Schiller-Duval bodies and markedly elevated alpha-fetoprotein (AFP) levels. Lymph node biopsy identified metastatic spread to the left inguinal region.

The clinical presentation mimicked more common pediatric conditions, such as rhabdomyosarcoma and vaginal polyps, complicating the diagnostic process. Early imaging findings suggested uterine or adnexal pathology, which led to initial misdiagnosis. However, targeted endoscopic and histopathological evaluation were instrumental in identifying the true vaginal origin.

This case provides a valuable clinical insight into the rare presentation of vaginal YST in pediatrics. This report contributes to the limited literature on vaginal YST and emphasizes the imperative of timely diagnosis and comprehensive management in rare but aggressive pediatric malignancies.