Klippel–Trenaunay–Weber syndrome with atypical presentation of hypersplenism and nephrotic syndrome: a case report

Kundzina, Linda; Lejniece, Sandra

doi:10.1186/s13256-017-1413-1

Cited by 5 publications

(2 citation statements)

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“…However, as her limb overgrowth gradually became more apparent, she was constantly annoyed by her larger right foot when buying new shoes. Atypical clinical manifestations of KTS reportedly include hypersplenism, nephrotic syndrome, cerebral cavernous angioma, and puerperal hemorrhage [17][18][19]. Bone involvement in KTS is commonly noted and typically manifests as circumferential hypertrophy, longer extremities, ectrodactyly, polydactyly, syndactyly, camptodactyly, and clinodactyly, and in rare cases, intraosseous vascular malformation [1,2,20,21].…”

Section: Discussionmentioning

confidence: 99%

Periosteal new bone formation in Klippel-Trénaunay syndrome: a case report

Fang

Zhang

et al. 2020

BMC Pediatr

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Background: Klippel-Trénaunay syndrome (KTS) is a complex congenital vascular disorder, typically accompanied by port-wine stains, varicose veins, and limb hypertrophy. This paper reports a rare and unusual clinical condition of periosteal reaction in a pediatric case of KTS. Although periosteal new bone formation is not rare in children, as is KTS, their dual occurrence or the presentation of the former due to KTS has not been previously documented. Our objective in this study is to highlight the potential association between periosteal new bone formation and KTS, as well as to help physicians consider this association when bone neoplasm has been ruled out. Case presentation: A 7-year old girl, initially presented with a persistent mild swelling in her left shank, with no abnormalities in the X-ray of the tibiofibular. However, after a few consults and examinations, 7 weeks later, a 17 cm-long periosteal new bone formation along the left tibia and diffused dilated vessels in the left shank were revealed by the radiological examination. Not knowing the true nature of the fast-growing lesion in a typical case of KTS was worrying. Therefore, a core needle biopsy was performed. The test demonstrated a possible parosteal hemangioma. Following further investigation through an excisional biopsy, and a pathological analysis, hyperplasia of the bone tissues with no tumor cells was revealed. Thereafter, an elastic stocking treatment was prescribed. During the first two-year follow-up, recurrence of the mass or sign of progression of KTS was not observed. Conclusions: Periosteal new bone formation is a potential manifestation of KTS. Based on the conclusive pathological results of the excisional biopsy, invasive examinations and surgeries could be avoided in future KTSsubperiosteal lesion manifestations.

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Section: Discussionmentioning

confidence: 99%

Periosteal new bone formation in Klippel-Trénaunay syndrome: a case report

Fang

Zhang

et al. 2020

BMC Pediatr

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“…KTS associates with a higher risk of developing serious complications as deep vein thrombosis (DVT), pulmonary embolism (PE), congestive heart failure, and recurrent internal bleeding from abnormal vessels in the gastrointestinal tract, kidney and genitalia [2,6,8,14,21,41,42]. Heart defects are also common presentations [41,43].…”

Section: Case Reportmentioning

confidence: 99%

Klippel-Trenaunay syndrome: case report and literature review

et al. 2019

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Klippel-Trenaunay syndrome (KTS) is a rare congenital disease, characterized by a triad of clinical features: (1) capillary malformations, manifesting as a "port wine stain", (2) vascular anomalies, mostly varicose veins and (3) bone and/or soft tissue hypertrophy, usually of one lower extremity. The symptoms are frequently accompanied by lymphatic abnormalities that in some cases may lead to lymphedema. KTS is mostly benign in the course. Nevertheless, patients with KTS are at higher risk of developing deep vein thrombosis (DVT), pulmonary thromboembolism, recurrent episodes of thrombophlebitis, dermatolymphangitis or internal bleeding. Management in KTS should be individualized, minimally invasive and involve multidisciplinary care of the patient. We report a case of a man with fully symptomatic KTS, after incident pulmonary thromboembolism in the past and with severe phlebolymphedema, effectively treated with decongestive lymphatic therapy (DLT). We also provide a review of the literature on the clinical aspects of this complex syndrome.

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