The Proteus Syndrome Associated With Life Threatening Hematuria

Abstract

The Proteus syndrome (PS) is a recently defined rare hamartomatous disorder. 1 PS comprises an association of verrucous epidermal nevi, infantile hemangiomas, lipomalike subcutaneous hamartomas and asymmetrical overgrowth of almost any part of the body. Vascular anomalies of the gastrointestinal tract, spleen, kidneys and testicles have been reported. To our knowledge we report the first case of bladder involvement in PS. CASE REPORT A 2-year-old girl was admitted to the hospital for treatment of extensive verrucous nevi and large hemangiomas involving mainly the right hemibody. The lesions also involved the right mandibular and periorbital area. The cutaneous lesions had been present since birth and were progressively increasing. She had multiple recent episodes of gross hematuria. The only laboratory abnormality was microscopic hematuria. The gross hematuria episodes prompted complementary evaluation of the urinary tract and adjacent organs. Thoracic, abdominal and pelvic computerized tomography revealed extensive vascular (venous) lesions involving the right lung, right medulla and right hemipelvis overlying a thickened and irregular bladder. The kidneys and ureters were normal. Voiding cystogram confirmed the irregular and nodular aspect of the right hemibladder wall (fig. 1). At cystoscopy extensive venous lesions involving the right hemibladder (excluding the trigone) were seen (fig. 2). Within a few days the child returned with acute massive gross hematuria with clot. A pre-shock state (hemoglobin 38) led to immediate intervention with a combination of selective bilateral internal iliac artery branch embolizations, cystoscopic declotting and bladder irrigation, which achieved control of the bladder hemorrhage. Because this child lived in a remote area, we had to consider a more definitive treatment. We opted for an endoscopic approach using a potassium titanium phosphate laser. At the time of surgery balloon catheters were placed in the internal iliac arteries in case of massive bleeding and conversion to open surgery. The venous lesions were treated in a sweeping fashion using 193 J total energy. At 3-year followup gross hematuria had not recurred and the child was thriving well. Control cystoscopy revealed an important but incomplete regression of the venous lesions. DISCUSSION To our knowledge the association of extensive intravesical venous lesions and PS has not been reported previously, and was a therapeutic challenge. An open approach (partial cystectomy) was entertained. However, the extent of the pelvic vascular anomalies seen on computerized tomography and arteriogram with the risk of major hemorrhage leading to total cystectomy and ileal conduit led us to opt for a more conservative endoscopic approach. Endoscopic treatment of bladder vascular lesions (hemangiomas) is well recognized. Smith reported the use of neodymium:YAG laser coagulation in bladder hemangiomas associated with the Klippel-Trenaunay syndrome (a syndrome related to PS). 2 We chose potassium titanium phosphate laser because of its excellent coagulation capabilities and superficial tissue penetration. 3 Despite the favorable out