Attached
Background - Hereditary haemorrhagic telangiectasia(HHT), also known as Osler-Weber-Rendu
syndrome, a rare autosomal dominant disorder that affects blood vessels throughout the body
and results in bleeding tendency. Forms of HHT include types 1, 2, 3 and juvenile polyposis/HHT
syndrome. Its incidence is 1 in 5,000 to 10,000.
M ethod - A 12-year-old boy who was investigated for epistaxis for 2 years of age, presented with
worsening of epistaxis, throbbing type frontal headache over six months with a progressively
increasing vascular birth mark over right upper limb. His mother and sister also had spontaneous
epistaxis. Examination revealed a pinkish purple papular vascular malformation on medial side of
upper limb with superficial telangiectatic vessels. There was telangiectasia on trunk, limbs and face.
Rest of the examination was normal.
Results - Basic hematology, chest X-ray and 2D echo were normal. Contrast CT brain and MRI brain
revealed L/middle cerebral artery vascular malformation. Four vessel carotid angiogram revealed
large L/parietal carotid AV fistula between l/m iddle cerebral artery and cortical veins with variceal
enlargement.
Child underwent open craniotomy and resection of AV fistula and had uneventful recovery.
Conclusion - Diagnosis was made clinically on the basis of Curacao-criteria, established by the
Scientific Advisory Board of the HHT Foundation, which are epistaxis, telangiectasia, visceral arteriovenous malformations and a first-degree relative who has HHT.
Our case fulfilled the Curacao criteria. Current recommended treatment for arterio-venous
Malformation (AVM) depends on its size and location. Interventional Radiologists offer nan-surgical
treatm ent for AVM. invasive treatm ent of brain AVMs include endovascular embolization, surgical
resection, and focal beam radiation alone or in combination.
