characterized by the association of soft tissue and bony hypertrophy, venous
malformations, lymphatic abnormalities, and cutaneous capillary
Extensive and bilateral form of Klippel-Trenaunay syndrome in a 2-year-old boy.
Note hypertrophy of the feet and leg length difference.
Angio-Osteohypertrophy; Klippel-Trenaunay-Weber Syndrome.
First described in 1900 by two French physicians,
Maurice Klippel and Paul Trénaunay, under the name of “naevus
varicosus osteohypertrophicus” (“Du naevus variqueux osteohypertrophique").
Unknown, but very rare. No racial predilection. Males and females
Causes unknown, may be multifactorial, but
usually assumed to be a sporadic disorder.
The cause of the soft tissue and bony hypertrophy
has not been elucidated, but is postulated to result from the increased blood
supply and local growth factors. The disorder may be caused
by a genetic mutation or
abnormalities during fetal development, intrauterine damage to the
sympathetic ganglia (or intermediolateral tract) leading to dilated
microscopic arteriovenous anastomoses.
A port-wine stain and venous varicosities in association
with bony and soft tissue hypertrophy, radiology (elongation and cortical thickening of affected
bones), and arterial and venous evaluation
(angiography, venography) are characteristic. Histology shows capillary
spread of the papilla dermis adjacent to the lesion, but also in deeper
layers of dermis and subcutis.
The cutaneous stains are the earliest signs, with
lateral plain hemangiomas (85% of cases), often affecting the lower limbs
(95% of cases). Osteohypertrophy, usually affecting the involved bone, is
often not present at birth, but appears within the first few months of life.
Associated anomalies include ocular anomalies, glaucoma,
cerebral aneurysm, spinal cord
arteriovenous malformations, gastrointestinal hemorrhage, and severe
menorrhagia. Eighty percent of the cord lesions may bleed
spontaneously or after straining or coughing at some time during the
patient's life. Often the bleeding is contained within the lesion, and no
neurologic deficit occurs. Treatment usually is symptomatic and, in general,
conservative. Specific embolization of extensive varicoses improves the
clinical picture. Intracutaneous laser surgery for angiokeratomas is also
Exclude anemia caused by recent or
ongoing hemorrhage from the abnormal vessels; obtain full neurologic
assessment; may require CT scan, MRI, or, angiography to locate presence of
cerebral or spinal vascular malformations. Assess presence of ocular
vascular masses and glaucoma.
Loss of autoregulation in the abnormal
vessels predisposes to hemorrhage, especially in the presence of
hypertension that may occur intraoperatively. Measures to obtund the
hemodynamic responses to direct laryngoscopy and tracheal intubation,
noxious surgical stimuli, and extubation should be performed. Avoidance of
coughing, straining, retching, and vomiting is important to prevent rupture
of the abnormal vessels. Extubation should be accomplished before
to cough arises. Central neuraxial anesthesia techniques are contraindicated in the presence of
Succinylcholine, when used,