Acute paraplegia due to spinal arteriovenous fistula in two patients with hereditary hemorrhagic telangiectasia

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by recurrent epistaxis, cutaneous telangiectasia, and visceral arteriovenous malformations (AVM). Of these, spinal AVM is a rare manifestation that concerns mainly children. In this report, we describe two cases of spinal AVM revealed by acute paraparesis due to subarachnoid hemorrhage in children with HHT and reviewed the literature on spinal arteriovenous malformations in HHT. In most of the cases reported, the clinical presentation was acute in the pediatric population and insidious during adulthood. The prognosis of spinal AVM mainly depends on the presence or not of medullar signs and symptoms and on the delay before treatment. In conclusion, any child with a family history of HHT should be considered at risk for spinal AVM in order to improve management of such complications and to decrease the risk of neurological sequellae.

Cerebrovascular Manifestations of Hereditary Hemorrhagic Telangiectasia

“…65 These lesions have a universally poor prognosis. 51,[66][67][68] In the Krings et al 51 series, all 7 treated patients had severe neurological deficits, including tetra-or paraplegia or spinal subarachnoid hemorrhage before treatment. These findings have been echoed in numerous case reports on treatment of spinal vascular malformations in patients with HHT.…”

“…These findings have been echoed in numerous case reports on treatment of spinal vascular malformations in patients with HHT. [66][67][68] Although the most common type of spinal vascular malformation is a type I spinal dural AVF, in the population with HHT, intradural perimedullary type IV fistulas are most commonly encountered. 51,[66][67][68] Perimedullary AVF are found along the surface of the spinal cord and have direct arterial supply from the posterior or anterior spinal arteries.…”

Outcomes of Pregnancy in Women With Hereditary Hemorrhagic Telangiectasia

“…Spinal arteriovenous malformations are present in 0-6% of patients with HHT 24,25 and have mostly been reported in children. 26,27 There are no published reports of patients with HHT developing complications from epidural anesthesia based on our search of MEDLINE from 1970-2013 using the terms hereditary hemorrhagic telangiectasia, or HHT, or Osler-Weber-Rendu and epidural anesthesia or spinal anesthesia. There are several case reports of women without HHT developing paralysis after puncture of a spinal arteriovenous malformation during regional anesthesia.…”

Surgical and Endovascular Treatment of Pediatric Spinal Arteriovenous Malformations

“…Less common presentations include scoliosis, gait disturbance, and congestive heart failure. Spinal AVMs have also been associated with inherited disorders such as hereditary hemorrhagic telangiectasia (28), familial cerebral cavernous hemangiomas (18), familial cutaneous hemangiomas (20), pulmonary AVMs (32), and Klippel-Trenaunay-Weber (KTW) (1,19,30). Given the coincidence of spinal vascular malformations with syndromal disorders, a complete workup to exclude syndromic causes of vascular malformations is warranted.…”