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Ottawa, ON—
The combination of Sturge-Weber and Klippel-Trénaunay syndromes
in a patient may be a single entity, said Catherine C. McCuaig,
MD, associate professor, University of Montreal. She described four
patients with the combined syndromes undergoing treatment at Sainte
Justine Hospital.
Sturge-Weber
syndrome combines a facial port-wine stain and/or vascular, neurologic,
and ocular abnormalities. The port-wine stain has V1 distribution
with choroid and ipsilateral meningeal vascular anomalies. People
with Sturge-Weber syndrome may have soft tissue and skeletal overgrowth.
Dentition may be affected. Prognosis is related to neurologic involvement:
seizures and developmental delays.
Cerebral imaging
of Sturge-Weber
syndrome indicates:
• Anomalies of ipsilateral cerebral veins,
• Anomalies of the dural sinus,
• Enlarged choroid plexus,
• Arteriovenous malformations,
• Arterial thrombosis,
• Gyriform cortical calcifications, and
• Subsequent atrophy.
Klippel-Trénaunay
syndrome combines:
• Vascular malformations of the capillary, venous, and lymphatic
types,
• Venous anomalies including abnormal superficial veins (e.g.,
lateral venous anomaly, deep venous hypoplasia, duplications, abnormal
venous valves), and
• Limb hypertrophy.
Combined syndromes
Dr. McCuaig described four cases of combined Sturge-Weber and Klippel-Trénaunay
syndromes. Three of the patients were male, one was female. They
ranged in age from four to 25 years.
“All patients had a patchy port-wine stain with soft tissue
hypertrophy,” she said at the annual meeting of the Canadian
Dermatology Association. Patients received between seven and 30
treatments with pulsed dye laser. Therapy was associated with improvement
on the forehead, neck, thorax, and proximal upper extremities, but
the centro-facial area resisted treatment.
“We were unable to predict neurologic disease based on the
severity of the port-wine stain, but all patients were severely
affected. They all had epilepsy, mental retardation, and severe
treatment-resistant glaucoma with some reduction in visual acuity,”
she said. Epilepsy was associated with perm-anent or transient episodes
of hemi-paresis requiring up to three systemic anticonvulsants.
Glaucoma was treated with opthalmic drops and, in three of the four
patients, repeated surgery.
“Varicosities with leg-length discrepancies were present in
three of the four, and we expect the young child of four years of
age will go on to have this problem, also.”
Computerized tomography scans and nuclear magnetic resonance imaging
showed multiple dural and leptomeningeal vessels, increased size
of the choroid plexus, dysplasia of the deeper veins, calcifications,
and significant cerebral atrophy in all four patients.
The combined syndromes may be more common than indicated by the
literature, as some cases are reported as phakomatosis pigmentovascularis,
she said. This syndrome is a developmental malformation affecting
the skin, eye, and central nervous system. Cutaneous pigmentary
involvement includes four subtypes: epidermal nevus, dermal melanocystosis,
nevus spilus, and dermal melanocytosis/nevus spilus.
The majority of phakomatosis pigmentovascularis cases are Type B.
Extracutaneous involvement is present, including glaucoma and epilepsy.
There is a genetic component to the combined disorder. Some familial
cases have been described. The combined syndromes have been linked
to genes 5q, 5p11, and 11p15.5.
“This is felt to be an otherwise lethal mutation, which survives
by genetic mosaicism. It is felt to be a single gene defect with
paradominant inheritance. A heterozygous carrier is felt to be
phenotypically normal.
“Somatic recombination leads to mosaicism, which permits survival
of an otherwise lethal autosomal gene. The patchy mosaic patterned
port-wine stain has a more limited expression of the lethal gene.”
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