(98) Prepubertal Vaginal Bleeding in Klippel-Trenaunay Syndrome: A Rare Case

Background: Klippel-Trenaunay Syndrome (KTS) is a rare congenital vascular disorder defined by a triad of symptoms: capillary malformation, venous malformation, and limb overgrowth. The capillary and venous malformations can involve the genitourinary (GU) tract, most commonly the bladder and uterus. Individuals with GU involvement generally present at or after puberty with intermittent bleeding, typically hematuria or irregular uterine bleeding. We present a rare case of recurrent vaginal bleeding due to vascular malformation in a prepubertal child, without precocious puberty, requiring laser ablation therapy.

Case: A 2-year-old female with KTS and large pelvic and lower extremity vascular malformations presented for recurrent vaginal bleeding. Her vaginal bleeding started at 12 months old and was attributed to labial adhesions. Her bleeding worsened, so at 20 months old, she was evaluated by pediatric gynecology and found to have mild labial adhesions with asymmetric, hypopigmentation of the left labia, red-purple tissue at the vaginal opening, and a left leg vascular anomaly. A pelvic ultrasound showed a “pubertal-appearing uterus,” measuring 3.2 cm x 1 cm with a 2.7 mm endometrial complex. An exam under anesthesia revealed SMR I breasts and external genitalia with a microperforate hymen and no estrogen effect, a possible vascular malformation on the left labia majora adjacent to the clitoral hood, and a non-estrogenized cervix and vagina (Figure 1). Due to ongoing vaginal bleeding and new hematochezia, a pelvic MRI was obtained revealing a small area with a venous malformation abutting the left vagina and small venous branches from the posterior left vaginal wall draining into an enlarged left internal iliac vein; similar findings were noted along the left rectum (Figure 2). Her uterus and ovaries remained “pubertal-appearing,” so pediatric endocrinology evaluated her for precocious puberty. Her exam was unchanged with a normal bone age. She underwent a GnRH stimulation test with baseline prepubertal luteinizing hormone and follicle stimulating hormone levels, as well as reassuring stimulated LH of 2.6 mIU/mL with an estradiol of < 5 pg/mL. Her bleeding was attributed to the vascular malformation with a plan to treat with laser ablation.

Comments: This is the first documented case of vaginal bleeding in a prepubertal patient with KTS suspected to be caused by vascular malformations of the uterus. Central and peripheral precocious puberty should always be on the differential and ruled out; however, in the setting of a negative work-up, vascular malformations should be considered a potential cause and laser-ablation can be considered as therapeutic treatment.