A new case of Klippel-Trenaunay-Weber (KTW) syndrome: Evidence of autosomal dominant inheritance

Abstract

Most cases of KTW syndrome are sporadic. However, in a few, other family members have some clinical manifestations of the syndrome, and an autosomal dominant mode of inheritance has been suggested. In this paper we present a family with an affected child who has large skin hemangiomata, overgrowth of the right leg, and severe heart defects. Her mother has a large capillary hemangioma on the left side of back and has developed severe varicosities in both lower extremities. The maternal grandmother developed severe varicosities in her legs at a young age. The clinical signs found in the mother represent a milder phenotype and might be explained as variable expressivity of the syndrome. The family tree supports autosomal dominant inheritance. © 1996 Wiley‐Liss, Inc.

Conus Medullaris-Cauda Arteriovenous Malformation and Klippel-Trenaunay Syndrome: What is the Treatment Goal?

“…1,3,5,11,13,16,28,30) Spinal AVMs account for 3-4% of all intradural spinal cord mass lesions, but conus medullaris-cauda AVMs are even rarer, sporadic, and mostly anecdotal. 31) There may be a possible association between KTS and spinal AVM as a result of an embryonic disorder that affects both the ventrolateral and dorsolateral arteries, and gives rise to segmental neurocutaneous angiomas.…”

“…28,30) However, KTS is genetically heterogeneous so the sporadic occurrence of the syndrome may be explained by predominant inheritance or autosomic-dominant inheritance with incomplete penetrance involving mutated genes that code for angiogenic factors. 1,5,11,28,30) Due to the sporadic incidence of KTS and to the even more rare KTS-spinal AVM association, further investigations are needed to validate the genetic hypothesis. If this hypothesis could be confirmed, genetic analysis could identify patients with higher risk to develop vascular lesions.…”

“…3) KTS may exceptionally be associated with spinal arteriovenous malformations (AVMs) that could be related to the overexpression of angiogenic factors. 1,5,11,28,30) However, these assumptions were recently contested, suggesting that the presence of spinal AVM is not a feature of KTS and this association might be erroneous. 3) In addition to the controversy about the terminology and pathological associations, there is no consensus about the optimal treatment for symptomatic spinal AVMs, and few KTS patients have been treated for spinal AVMs (Table 1).…”

A Case of Klippel Trenaunay Syndrome

“…10 rarely it can be inherited as an autosomal dominant trait. 11 There is no cure for this disorder. Therapeutic objectives seek to improve the patient's condition and treat the consequences of severe lesions and length discrepancy.…”

An Unusual Case of Klippel-Trenaunay-Weber Syndrome Presenting with Portosystemic Encephalopathy

“…The diagnosis of ROW is based on a combination of 4 clinical criteria: the recognition of mucocutaneous telangiectases, the occurrence of spontaneous and recurrent episodes of epistaxis, the presence of visceral involvement, and a family history of this disease (13 (15,16). It has been postulated that this syndrome may be due to a somatic mutation for a factor critical to vasculogenesis and angiogenesis in embryonic development (6).…”