Massive Hematuria in Adults with Klippel-Trenaunay Syndrome Associated with Vascular Malformation of the Bladder

Shekarriz, Bijan; Upadhyay, Jyoti; Smith, Carr J.; Kazmers, Andris; Frontera, Rene

doi:10.1159/000030537

Cited by 11 publications

(7 citation statements)

References 12 publications

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“…GENET.) Pakter et al, 1988;Hockley et al, 1989;Shekarriz et al, 2000] and other locations, such as the bowel [Jafri et al, 1983], bones [Vollmar and Vogt, 1976;Ekerot et al, 1981], omentum [Komi et al, 1970], intracranial location [Suga et al, 1994], and diffuse intra-abdominal lymphatic malformations [Kondo et al, 1997]. To my knowledge, only 11 tumors have been described with KTS (Table XII).…”

Section: Klippel-trenaunay Syndromementioning

confidence: 99%

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

Lapunzina

2005

American J of Med Genetics Pt C

250

215

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Overgrowth syndromes (OGS) comprise a heterogeneous group of disorders in which the main characteristic is that either weight, height, or head circumference is 2-3 standard deviations (SD) above the mean for sex and age. A striking feature of OGS is the risk of neoplasms. Here, the relative frequency of specific tumors in each OGS, topographic location, and age of appearance is determined by reviewing published cases. In some OGS (Perlman, Beckwith-Wiedemann, and Simpson-Golabi-Behmel syndromes and hemihyperplasia) more than 94% of tumors appeared in the abdomen usually before 10 years of age, mainly embryonal in type. In Perlman syndrome, only Wilms tumor has been recorded, whereas in Sotos syndrome, lympho-hematologic tumors are most frequent. Based on literature review, a specific schedule protocol for tumor screening is suggested for each OGS. A schedule with different intervals and specific tests is proposed for a more rational cost/benefit program for these disorders.

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Section: Klippel-trenaunay Syndromementioning

confidence: 99%

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

Lapunzina

2005

American J of Med Genetics Pt C

250

215

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“…Most of the hematuria of KTS can be relieved by conservative treatment. [ 14 ] The onset age of hematuria in this patient is relatively late, and only small varicose veins in the mucosa can be seen under cystoscope and flexible ureteroscope. Small hemangioma protrudes from the bladder mucosa, and no large hemangioma and thick veins can be seen, so the degree of hematuria is mild.…”

Section: Discussionmentioning

confidence: 91%

“…Endoscopic focal resection is not recommended at present, because it is difficult to estimate the scope and depth of abnormal blood vessels under the microscope, which may induce uncontrollable massive bleeding. [ 14 ] As for limitations,in this case, no arteriography was performed to distinguish patients from Parkes-Weber syndrome, and interventional therapy was not used to evaluate the treatment of malformed veins and hemangioma. On the other hand, we may be able to delay or control the progression of the disease as much as possible through gene therapy.…”

Section: Discussionmentioning

confidence: 99%

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

Lin,

Yang,

et al. 2024

Medicine

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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.

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“…Shekarriz et al reported two cases of hematuria which could be controlled by endoscopic and arteriographic procedures [6]. Other authors suggest fulguration and laser procedures as initial management [7,8].…”

Section: Discussionmentioning

confidence: 99%