Challenges in orthopaedic management of Parkes-Weber syndrome.
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ABSTRACT:
SUBMITTER: Ferreira MS
PROVIDER: S-EPMC3645401 | biostudies-other | 2013
REPOSITORIES: biostudies-other
Publications
Challenges in orthopaedic management of Parkes-Weber syndrome.
Ferreira Mara Silva MS Francisco Telma T Tavares Delfin D
BMJ case reports 20130419
A 16-year-old boy with a diagnosis of Parkes-Weber syndrome presented with a lower leg discrepancy of 3 cm for orthopaedic management. He had the triad of red skin lesion, lymphoedema and overgrowth of the right leg and multiple arteriovenous fistulae confirmed by angiography. Considering the risk of aggravating the vascular lesion, we decided conservative management of unequal limb lengths as long as this is well tolerated. ...[more]
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Project description:The Parkes Weber syndrome is a congenital vascular malformation, characterized by varicose veins, arterio-venous fistulas and overgrown limbs. No broadly accepted animal model of Parkes Weber syndrome has been described. We created side-to-side arterio-venous fistula between common femoral vessels with proximal non-absorbable ligature on common femoral vein limiting the enlargement of the vein diameter in Wistar rats. Contralateral limb was sham operated. Invasive blood pressure measurements in both iliac and inferior cava veins were performed in rats 30 days after fistula creation. Tight circumference and femoral bone length were measured. Histopathology and morphology of soleus muscle, extensor digitorum longus muscle, and the common femoral vessel were analyzed. 30 days following arterio-venous fistula creation, a statistically significant elevation of blood pressure in common iliac vein and limb overgrowth was observed. Limb enlargement was caused by muscle overgrowth, varicose veins formation and bone elongation. Arterio-venous fistula with proximal outflow limitation led to significant increase of femoral vein circumference and venous wall thickness. Our study indicates that the described rat model mimics major clinical features characteristic for the human Parkes Weber syndrome: presence of arterio-venous fistula, venous hypertension and dilatation, varicose veins formation, and the limb hypertrophy. We reveal that limb overgrowth is caused by bone elongation, muscle hypertrophy, and venous dilatation. The newly established model will permit detailed studies on the mechanisms underlying the disease and on the efficacy of novel therapeutic strategies for the Parkes Weber syndrome treatment.
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Project description:Sturge-Weber syndrome is a neurocutaneous disorder with skin, eye, and brain involvement. Prior series suggest about 50% of patients have seizures/neurodeterioration. Low-dose (3-5 mg/kg/d) aspirin use in this population is controversial. This study further addresses the side effects and outcomes of low-dose aspirin usage in Sturge-Weber syndrome. Fifty-eight subjects on aspirin with brain involvement were analyzed in a retrospective chart review. Charts were evaluated for brain involvement, age at first seizure, and side effects. Subjects' clinical stability was compared using neurologic scores. The majority of subjects had neurologic scores reflecting reasonable seizure control (91%), none or mild hemiparesis (57%), no vision impairment (71%), and none or mild cognitive impairment (80%). Forty-nine reported no significant side effects, and 9 reported either allergic reaction or minimal to significant bleeding on aspirin. This cohort's clinical experience adds significant support for low-dose aspirin use to optimize neurodevelopmental outcome in Sturge-Weber syndrome with minimal side effects.
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