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Last update 23 Jan 2025

Klippel-Trenaunay-Weber Syndrome

Last update 23 Jan 2025

Basic Info

Synonyms

ANGIOOSTEOHYPERTROPHY SYNDROME, Angio Osteohypertrophy Syndrome, Angio-Osteohypertrophy Syndrome

+ [98]

Introduction

A congenital disorder that is characterized by a triad of capillary malformations (HEMANGIOMA), venous malformations (ARTERIOVENOUS FISTULA), and soft tissue or bony hypertrophy of the limb. This syndrome is caused by mutations in the VG5Q gene which encodes a strong angiogenesis stimulator.

Clinical Trials associated with Klippel-Trenaunay-Weber Syndrome

NCT06642051

/ RecruitingNot Applicable

Safety of the Sonablate System for the High-Intensity Focused Ultrasound (HIFU) Ablation of Incompetent Veins of the Periphery

The goal of this clinical trial is to learn if the Sonablate High Intensity Focused Ultrasound device can be safely used to treat patients with Chronic Venous Incompetence (CVI) including those with venous malformations of the periphery meaning legs, abdomen, chest or back. Examples of CVI are varicose veins, vascular congestion, venous ulcer, venous clusters, venous anomalies, mixed malformation, Klippel-Trenaunay Syndrome, CLOVES, Syndrome, Blue Rubber bleb Nevus Syndrome. HIFU is a non-invasive treatment as opposed to current treatment options which include incisions, needle penetration, wire insertions or catheter insertions.

Start Date11 Sep 2024

Sponsor / Collaborator

Sonablate Corp.

JPRN-jRCT2041230065

/ RecruitingPhase 3IIT

A Long-term Study of KP-001 in patients with vascular malformation including venous malformation, lymphatic malformation, and Klippel-Trenaunay Syndrome (Phase III)

Start Date03 Aug 2023

Sponsor / Collaborator-

JPRN-jRCT2041230064

/ Not yet recruitingPhase 3IIT

Phase III confirmatory study of KP-001 in patients with venous malformation, lymphatic malformation and Klippel-Trenaunay Syndrome

Start Date03 Aug 2023

Sponsor / Collaborator-

100 Clinical Results associated with Klippel-Trenaunay-Weber Syndrome

100 Translational Medicine associated with Klippel-Trenaunay-Weber Syndrome

0 Patents (Medical) associated with Klippel-Trenaunay-Weber Syndrome

1,778

Literatures (Medical) associated with Klippel-Trenaunay-Weber Syndrome

01 Feb 2025·International Journal of Gynecology & Obstetrics

Obstetric management for pregnant women with Klippel–Trenaunay syndrome: A UK case report and review of the literature

Review

Author: Johnson, Jo‐Anne ; Silva Correia, Inês F. ; Hussain, Munawar

AbstractKlippel–Trenaunay Syndrome (KTS) is a rare congenital vascular disorder characterized by extensive capillary and venous malformations that pose unique challenges during pregnancy. This case report discusses the successful management of a 34‐year‐old pregnant woman with KTS who had two caesarean sections, resulting in the birth of two healthy babies. Despite the lack of evidence‐based guidelines for obstetrical management in KTS, a multidisciplinary team collaborated to devise a high‐risk thrombosis management plan, involving the use of compression stocking and low molecular weight heparin prophylaxis. The patient's elevated risk of thrombosis, exacerbated during pregnancy, informed the decision of caesarean sections, aligning with finding that in most KTS pregnancies, this method of delivery based on obstetric indications and arteriovenous malformations is chosen. This case highlights the importance of systematic and patient‐centered care, advocating for comprehensive obstetric management guidelines to address the unique challenges posed by KTS during pregnancy. Further research is warranted to enhance our understanding and refine guidelines for individuals with vascular abnormalities linked to KTS.

01 Jan 2025·Clinical Dysmorphology

Nephrocalcinosis, distal renal tubular acidosis and skeletal abnormality in two siblings with ROGDI-related Kohlschütter-Tönz syndrome

Article

Author: Koneru, Swetha ; Dhareneni, Prashanth Rao ; Nerakh, Gayatri

IntroductionKohlschütter-Tönz (KTS) is a rare autosomal recessive, genetically heterogeneous disorder characterized by a triad of early-onset seizures, global developmental delay or regression, and amelogenesis imperfecta of both temporary and permanent teeth. To date, 66 cases have been reported in the literature, of which 44 with genetic confirmation.Case reportHere we report the observation of sibling pairs in a family from a small village in India who presented with nephrocalcinosis, distal renal tubular acidosis, and skeletal abnormality. Nephrocalcinosis has only been reported once before in an individual affected with KTS.ResultsTrio exome sequencing revealed a novel, homozygous, likely pathogenic variant, c.646-2_649del, in exon 9 of the ROGDI gene (NM_024589.3) in the first child. Sanger sequencing confirmed homozygosity in both children. Both parents are heterozygous carriers of the same variant.ConclusionFurther research needs to be done to identify the exact mechanism by which ROGDI-encoded protein deficiency leads to nephrocalcinosis and distal renal tubular acidosis.

01 Jan 2025·American Journal of Neuroradiology

Alternative Venous Pathways: A Potential Key Imaging Feature for Early Diagnosis of Sturge-Weber Syndrome Type 1

Article

Author: Manteghinejad, Amirreza ; Andronikou, Savvas ; Clifford, Simon M ; Cerron-Vela, Carmen R

BACKGROUND AND PURPOSESturge-Weber syndrome (SWS) is a rare congenital disorder characterized by cortical atrophy and calcifications on late-stage imaging. Understanding the evolution of brain lesions is crucial for effective early interventions, yet the timeline remains unclear. We aimed to evaluate early brain MRI findings and their progression longitudinally on follow-up MRI in children diagnosed with SWS.MATERIALS AND METHODSWe retrospectively included all children with a confirmed diagnosis of SWS between 2009 and 2023 who had at least 2 available MRIs performed before the age of 2 years. A pediatric radiologist and a pediatric neuroradiologist evaluated all the MRI scans for pial enhancement, choroid plexus enlargement, atrophy, calcifications, a prominent subarachnoid varicose network, transmedullary veins, subependymal veins, and deep extraventricular veins. Descriptive analysis was used for demographic data and brain lesion prevalence. Cumulative incidence curves were used to show the timeline of emerging lesions. K-means clustering was used to categorize the lesions based on their prevalence at 1, 2, 3, 6, 12, 18, and 24 months after birth.RESULTSNine patients met the inclusion criteria. Median ages at the first and last MRIs were 35 days (interquartile range [IQR]: 11-123) and 294 days (IQR: 208-465), respectively. The most prevalent lesions at the first MRI were subarachnoid varicose network (88.9%) and transmedullary veins (77.8%), while prevalence of atrophy and calcifications differed most between the first and last MRIs. The results of the elbow method and K-means clustering showed that we can divide SWS lesions into 3 groups based on their timeline of emergence. The first cluster contained subarachnoid varicose network, transmedullary veins, subependymal veins, and choroid plexus enlargement. The second cluster contained deep extraventricular veins, pial enhancement, accelerated myelination, and atrophy. The last cluster contained calcifications.CONCLUSIONSOur findings suggest that dilated venous channels emerge early as a compensatory mechanism, preceding atrophy and calcification. Additionally, these dilated channels precede the appearance of abnormal contrast enhancement of the pia, often termed leptomeningeal angioma. This underscores the importance of early recognition and monitoring of these initial imaging indicators in clinical practice.

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