Clinically Significant Bleeding in a Patient With von Willebrand Exon 28 Polymorphism D1472h: A Case Report

Abstract

a malignancy should always be considered. We present three cases of genital malignancies presenting as vaginal bleeding occurring in infancy, childhood, and pubescence. Case 1: A 7 month old infant was initially seen in a primary care clinic with a three day history of blood in her diapers. An evaluation for urinary tract infection was negative and renal ultrasound showed no structural abnormalities. Multiple episodes of bleeding occurred over the next month. Pelvic ultrasound and vaginoscopy revealed a 2 centimeter friable vaginal mass consistent with a yolk sack tumor. Case 2: A 7 year old followed for congenital absence of the right kidney was noted to have new onset hematuria on urinanalysis. Due to an unclear etiology of the bleeding, a workup for precocious puberty was preformed and was negative. Pelvic ultrasound revealed an ill defined endometrial stripe with normal ovaries. Subsequent vaginoscopy and biopsy revealed clear cell carcinoma of the vagina. Case 3: A 13 year old presented with probable anovulatory estrogen withdrawal bleeding and severe anemia. She was treated on different occasions with an oral contraceptive pill taper, daily norethindrone acetate, and intravenous estrogen with minimal response. Pelvic ultrasound revealed a large clot in the uterine cavity. Patient underwent vaginoscopy with dilation and curettage. Findings at time of surgery and subsequent histology revealed a neuroendocrine tumor of the cervix. Comments: Vaginal bleeding in infancy or childhood is more alarming to a physician than abnormal menstruation in an adolescent. Despite the high incidence of menstrual irregularities in adolescents, continued symptoms should also trigger further investigation. These cases validate the necessity of complete evaluation of the genital tract when a premenarchal or adolescent child presents with vaginal bleeding. Malignancy ranks low on the list of differential diagnoses and is rare in this age group. However, there may be dire consequences to delayed diagnosis and therefore, a timely and thorough evaluation with vaginoscopy by a pediatric gynecologist is recommended.