Klippel-Trenaunay syndrome and spinal arteriovenous malformations: an erroneous association.

AJNR. American Journal of Neuroradiology
Ahmad I AlomariPatricia E Burrows

Abstract

KTS is a rare limb overgrowth disorder with slow-flow vascular anomalies. This study examines the presumed association between KTS and spinal AVMs. We performed a MEDLINE search of articles and reviewed textbooks of spinal diseases to study the association between KTS and spinal AVM. Our goal was to ascertain the basis on which the diagnosis of KTS was established and to evaluate the evidence of its association with spinal AVMs. In addition, the data base of the Vascular Anomalies Center at Children's Hospital Boston was queried for patients with KTS, and the association with spinal AVM was investigated. Twenty-four published reports on spinal AVMs in 31 patients with KTS were reviewed. None of these references provided solid evidence of the diagnosis of KTS in any patient. Clinical data were either incompatible with the diagnosis of KTS or were inadequate to establish the diagnosis. Alternative possible diagnoses (CLOVES syndrome and CM-AVM) were suggested by the first author for 9 of the patients reported in these articles. The medical records of 208 patients with the diagnosis of KTS were analyzed; not a single patient had clinical or radiologic evidence of a spinal AVM. An association between KTS and spinal AVM, as posited ...Continue Reading

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Citations

Aug 7, 2013·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Arivarasan KarunamurthyMiguel Reyes-Múgica
Mar 26, 2011·AJNR. American Journal of Neuroradiology·M Schumacher
Aug 10, 2013·AJNR. American Journal of Neuroradiology·K Namba, S Nemoto
Nov 29, 2012·Neurologic Clinics·Mark N Rubin, Alejandro A Rabinstein
Mar 20, 2012·Annals of Vascular Surgery·Ahmad I Alomari
Feb 27, 2013·Neurologia Medico-chirurgica·Donatella SgubinPierluigi Longatti
Sep 13, 2016·Seminars in Ultrasound, CT, and MR·Shawn M VuongTodd A Abruzzo
Jun 24, 2021·Neurosurgery·Zeferino DemartiniAdriane Cardoso-Demartini

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CLOVES Syndrome

Congenital, Lipomatous, Overgrowth, Vascular Malformations, Epidermal Nevi and Spinal/Skeletal Anomalies and/or Scoliosis (CLOVES) syndrome is a rare genetic disorder caused by mutations in the PIK3CA gene. Symptoms include blood vessel abnormalities, small tissue tumors, skin legions and spinal abnormalities. Here is the latest research on CLOVES syndrome.