Klippel-Trenaunay syndrome and spinal arteriovenous malformations: an erroneous association.
OBJECTIVE
KTS is a rare limb overgrowth disorder with slow-flow vascular anomalies. This study examines the presumed association between KTS and spinal AVMs.


METHODS
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.


RESULTS
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.


CONCLUSIONS
An association between KTS and spinal AVM, as posited in numerous references, is most likely erroneous. The association has neither been reliably proved in the limited published literature nor encountered in a large cohort.
Alomari
A I
AI
Division of Interventional Radiology,Children’s Hospital Boston, 300 Longwood Ave., Boston, MA 02115, USA. ahmad.alomari@childrens.harvard.edu
Orbach
D B
DB
Mulliken
J B
JB
Bisdorff
A
A
Fishman
S J
SJ
Norbash
A
A
Alokaili
R
R
Lord
D J
DJ
Burrows
P E
PE
D001165:Arteriovenous Malformations / Q000000981:diagnostic imaging* / Q000453:epidemiology*; D002648:Child; D002675:Child, Preschool; D015897:Comorbidity; D005260:Female; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D007715:Klippel-Trenaunay-Weber Syndrome / Q000000981:diagnostic imaging* / Q000453:epidemiology*; D008297:Male; D011859:Radiography; D018570:Risk Assessment; D012307:Risk Factors; D013116:Spinal Cord / Q000002:abnormalities* / Q000098:blood supply*