Klippel-Trenaunay Syndrome

Congenital malformation characterized by the association of soft tissue and bony hypertrophy, venous malformations, lymphatic abnormalities, and cutaneous capillary malformations.

(Figure)

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 equally affected.

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 by mesodermal 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 used.

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 the tendency to cough arises. Central neuraxial anesthesia techniques are contraindicated in the presence of spinal lesions.

Succinylcholine, when used, should be administered ...