Recurrent hematuria involving urinary system with Klippel-Trenaunay syndrome: A case report

Abstract

Rationale: Klippel-Trenaunay syndrome (KTS) is a rare congenital venous malformation, it had been found to be caused by mutations of the phosphatidylinositol 4, 5-diphosphate 3-kinase catalytic subunit alpha (PIK3CA) gene. Currently KTS is defined as a triad of skin wine pigmented spots, varicose veins and malformations of the lower extremities, and hypertrophy of bone and soft tissue, involving urinary system up to 6% to 30%. When the urinary system is involved, KTS is often presented as painless massive gross hematuria.

Patient concerns: This article describes a woman who was hospitalized with painless massive gross hematuria. Physical examination revealed significant hypertrophy of the right lower limb with varicose veins, port-wine stains in the skin, and right perineal hemangiomatous changes with swelling. The patient was admitted to hospital 4 times for repeated hematuria and infection.

Diagnoses: By physical examination, CT urography, ureteroscopy and cystoscopy, the patient was diagnosed to have Klippel-Trenaunay syndrome, involving the urinary system.

Interventions: The patient hematuria improved after multiple indwelling D-J tubes and anti-inflammatory treatment.

Outcomes: The final symptoms of hematuria improved significantly, follow-up so far has not recurred.

Lessons: This case presents the possibility of painless gross hematuria with KTS. Most of patients can be improved by conservative treatment. Cystoscopic laser therapy is the preferred treatment for poor bleeding control. Cystectomy and nephrectomy should be considered when life-threatening.

Figure 1.

(A) Port-wine stains of skin. (B) Significant hypertrophy of the right lower extremity. (C) hemangiomatous change of the right perineum with swelling. (D) Varicose veins in the right lower limb.

Figure 2.

The right kidney was weakened, the renal cortex was swollen, and the upper wall of the right ureter was thickened.

Figure 3.

(A) Obvious thickening of the right internal iliac vein and its branches; (B) The top of the bladder is suspected to have thickened veins (C) Obvious thickening of the right hip vein and thickening of soft tissue; (D) large number of round calcification points in pelvic cavity and lower abdomen (phlebolithiasis).

Figure 4.

(A) Red blood clots in calyces. (B) Diffuse multiple bleeding foci in calyces. (C) Extensive bleeding spots and small hemangiomas in the bladder. (D) The internal vesical veins are tortuous.