Klippel-Trenaunay-Weber Syndrome with Atypical Presentation of Cerebral Cavernous Angioma: A Case Report and Literature Review

Şenoğlu, Mehmet; Sayhan, Sevil; Okromelidze, Lela; Middlebrooks, Erik H.

doi:10.1016/j.wneu.2019.03.132

Cited by 6 publications

(4 citation statements)

References 23 publications

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“…The exact etiology and pathogenesis of KTWS remain unclear. It may be associated with RASA1 gene mutations in some patients, but genetic abnormalities are not present in most cases of KTWS[ 1 , 5 ].…”

Section: Discussionmentioning

confidence: 99%

“…Klippel-Trenaunay-Weber syndrome (KTWS) is a rare vascular disorder distinguished by hemihypertrophy, variceal veins, and port-wine stains. Klippel and Trenaunay first described Klippel-Trenaunay syndrome (KTS) in 1900 as hemihypertrophy and varicose veins[ 1 ]. In 1907, Weber described KTS in more detail and called the disease KTWS when a port-wine stain was present with KTS.…”

Section: Introductionmentioning

confidence: 99%

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Klippel-Trenaunay-Weber syndrome with ischemic stroke: A case report

Lee¹,

Choi²

2022

World J Clin Cases

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BACKGROUND Klippel-Trenaunay-Weber syndrome (KTWS) is a very rare syndrome that involves three conditions: Cutaneous hemangiomas, varicosities, and soft-tissue hypertrophy of the affected limb. There are few cases of ischemic infarction with KTWS. Here, we describe a case of KTWS with ischemic stroke. CASE SUMMARY A 43-year-old man was diagnosed with KTWS with ischemic stroke. His chief complaints were worsening weakness and spasticity in the right leg. These symptoms had been present for 1 year, but the patient did not receive comprehensive rehabilitation until he underwent a 3-week integrated inpatient rehabilitation program at our center. After the program, his muscle strength, walking ability, and exercise endurance improved. Although relatively rare, clinicians should consider the possibility of a thromboembolic event in KTWS patients. Integrated rehabilitation can help such patients to recover function. CONCLUSION In conclusion, although rare, patients with KTWS may experience central nervous system vascular malformations and accompanying stroke. It is necessary to investigate whether such patients have any neurological or comorbid abnormalities. Even in the subacute or chronic period after neurological insult, integrated rehabilitation programs can lead to structural and functional enhancement.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Klippel-Trenaunay-Weber syndrome with ischemic stroke: A case report

Lee¹,

Choi²

2022

World J Clin Cases

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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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“…KTWS may rarely occur in the affected limb of patients with cutaneous haemangioma, venous varicosity, and hypertrophy of osseous-soft tissue ( 31 ). Mutations in RAP1A have been associated with KTWS and interact with RASA1 and Krev interaction trapped protein 1 (KRIT1) ( 32 , 33 ). Patients with SWS harbour vascular malformations in the face, eyes, and brain due to a mutation in RASA1.…”

Section: Rasa1 Involvement In Pathological Processesmentioning

confidence: 99%

Role of RASA1 in cancer: A review and update (Review)

Zhang

Wang³

et al. 2020

Oncol Rep

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Ras p21 protein activator 1 (RASA1) is a regulator of Ras GDP and GTP and is involved in numerous physiological processes such as angiogenesis, cell proliferation, and apoptosis. As a result, RASA1 also contributes to pathological processes in vascular diseases and tumour formation. This review focuses on the role of RASA1 in multiple tumours types in the lung, intestines, liver, and breast. Furthermore, we discuss the potential mechanisms of RASA1 and its downstream effects through Ras/RAF/MEK/ERK or Ras/PI3K/AKT signalling. Moreover, miRNAs are capable of regulating RASA1 and could be a novel targeted treatment strategy for tumours.

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Klippel-Trenaunay-Weber Syndrome with Atypical Presentation of Cerebral Cavernous Angioma: A Case Report and Literature Review

Cited by 6 publications

References 23 publications

Klippel-Trenaunay-Weber syndrome with ischemic stroke: A case report

Klippel-Trenaunay-Weber syndrome with ischemic stroke: A case report

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

Role of RASA1 in cancer: A review and update (Review)

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