Opdenakker, Olivier

Renson, Thomas

Van de Walle, Johan

English

Ghent University Academic Bibliography

INSIGHTS AND IMAGESVesical Hemangioma in a Patient with Klippel-Trenaunay-WeberSyndromeFigure 1. Transabdominal ultrasound image shows a largehyperechoic mass arising from the dome of the bladder.A3-year-old child with Klippel-Trepanauy-Weber syn-drome (KTWS), was admitted to our hospital withrecurrent episodes of hematuria. Subsequent clinicalhistory revealed 2 episodes of hematuria some weeks before,not initially mentioned by the parents. Urine analyses werenegative for erythrocytes and proteinuria. The child mani-fested a normocytic anemia (hemoglobin, 9.9 g/dL; meancorpuscular volume, 74 mm3; iron, 13 mg/d). Coagulationtests were normal; her D-dimers were 2060. An ultrasound ex-amination of the urinary tract demonstrated a giant mass inthe vesical dome (Figure 1). Magnetic resonance imagingrevealed a complex vascular malformation at the left leg.Additional to this finding, a large vesical vascularmalformation of 4.7  2.4 cm was visualized (Figures 2and 3; available at www.jpeds.com). After multidisciplinarycounseling, conservative treatment of close follow-up waschosen as therapy; during 6 years of follow-up, she has hadtransabdominal ultrasound and clinical examinations.KTWS is a rare disorder characterized by capillary, venousand lymphatic, nonmalignant malformations that affects 1 in30 000 live births. The syndrome consists typically of cuta-neous capillary malformations, varicose veins, and boneand soft tissue hypertrophy of the affected extremity, leadingto limb enlargement.1 In 95% of cases, these 3 signs arelimited to a lower limb.2 Seventy-five percent of patients pre-sent with symptoms before the age of 10 years. Urinary tractinvolvement is reported in up to 23% of patients withKTWS.3 The syndrome was described for the first time in1900 by Klippel and Trenaunay as “nevus varix osteohyper-trophique.” In 1907, Weber described a similar syndrome,but with the presence of large arteriovenous fistulae.4,5Some authors consider the 2 syndromes as separate condi-tions. Tian et al identified VG5Q, an angiogenic factor, asan agent in the pathogenesis of KTWS.6,7 Gene mutationsthat upregulate the VG5Q expression lead to increased angio-genesis. Contrary to previously held beliefs, urogenital man-ifestations of KTWS are not rare.8 In 1971, Lindenauerreported a high frequency of hematuria of unknown causein patients with KTWS.9 Hemorrhagic shock in a 2-year-old child with a bladder hemangioma emphasized that earlydiagnosis is important to identify patients at risk.10In cases of moderate and infrequent episodes of hematuria,a conservative approach (observation or bladder irrigation)is recommended.1,6When conservativemanagement is insuf-ficient, a more invasive approach is considered. Partial cys-tectomy is the current standard therapy for benign bladdertumors when located extratrigonally. Because of the signifi-cant morbidity (reduced storage function of the bladder,J Pediatr 2019;208:293.0022-3476/$ - see front matter. ª 2019 Elsevier Inc. All rights reserved.https://doi.org/10.1016/j.jpeds.2019.01.011impaired voiding function) that is associated with this surgi-cal intervention, less invasive treatment options have beenproposed with their specific limitations and risks of compli-cations. Good results have been reported with laser photo-coagulation, which is a feasible treatment for smallerlesions.4,6,10,11 Radiotherapy is not invasive, but has ahigh associated morbidity. Transurethral resection carriesthe risk of excessive bleeding and selective embolization ofthe internal iliac arteries can result in rapid collateraliza-tion.1,4 nOlivier Opdenakker, MDDepartment of Intensive CareUniversity Hospital LeuvenLeuven, BelgiumThomas Renson, MDDepartment of Pediatric Nephrology and RheumatologyGhent University HospitalJohan Vande Walle, MD, PhDDepartment of Pediatric NephrologyGhent University HospitalGent, BelgiumReferences available at www.jpeds.com293THE JOURNAL OF PEDIATRICS  www.jpeds.com Volume 208  May 2019References1. Husmann DA, Rathburn SR, Driscoll DJ. Klippel-Trenaunay syndrome:incidence and treatment of genitourinary sequelae. J Urol 2007;177:1244-9.2. Liu NF, Lu Q, Yan ZX. Lymphatic malformation is a common compo-nent of Klippel-Trenaunay syndrome. J Vasc Surg 2010;52:1557-63.3. Furness PD, Barqawi AZ, Bisignani G, Decter RM. Klippel-Trenaunaysyndrome: 2 case reports and a review of genitourinary manifestations.J Urol 2001;166:1418-20.4. Favorito LA. Vesical hemangioma in patient with Klippel-Trenaunay-Weber syndrome. Int Braz J Urol 2003;29:149-50.5. Kato M, Chiba Y, Sakai K, Orikasa S. Endoscopic neodymium: yt-trium aluminium garnet (Nd:YAG) laser irradiation of a bladderhemangioma associated with Klippel-Weber syndrome. Int J Urol2000;7:145-8.293.e16. Vicentini FC, Denes FT, Gomes CM, Danilovic A, Silva FA, Srougi M.Urogenital involvement in the Klippel-Trenaunay-Weber syndrome.Treatment options and results. Int Braz J Urol 2006;32:697-704.7. Tian XL, Kadaba R, You SA, Liu M, Timur AA, Yang L, et al. Identifica-tion of an angiogenic factor that when mutated causes susceptibility toKlippel-Trenaunay syndrome. Nature 2004;427:640-5.8. Klein TW, Kaplan GW. Klippel-Trenaunay syndrome associated withurinary tract hemangiomas. J Urol 1975;114:596-600.9. Lindenauer SM. Congenital arteriovenous fistula and the Klippel-Trenaunay syndrome. Ann Surg 1971;174:248-63.10. Takemoto J, Yamazaki Y, Sakai K. A case of large bladder hemangiomasuccessfully treated with endoscopic yttrium aluminium garnet laserirradiation. Int J Urol 2011;18:854-6.11. Zini L, Amara N, Graziana JP, Villers A, Biserte J, Mazeman E. Klippel-Trenaunay syndrome andmultiple vesical hemangiomas: treatment withNeodymium:YAG laser. Prog Urol 2001;11:1282-4.Opdenakker, Renson, and WalleFigure 2. A T1-weighted coronal magnetic resonance imageshows a lobullary, isointense mass in the vesical dome.Figure 3. A T2-weighted inversion and T1-weighted recoverymagnetic resonance image revealing a large mass in thevesical dome.May 2019 INSIGHTS AND IMAGES293.e2

Vesical hemangioma in a patient with Klippel-Trenaunay-Weber syndrome

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Vesical hemangioma in a patient with Klippel-Trenaunay-Weber syndrome

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