Cerebral and spinal vascular involvement in Hereditary Hemorrhagic Telengiectasia: Report of two cases

Abstract

Introduction—We present two cases of Hereditary Hemmorhagic Telengiectasia (HHT), one pediatric
and the other adult, with a view to highlight the myriad cerebral and spinal vascular manifestations of this
disease. The syndrome and its various findings will be reviewed including the utility of angiography in
assessing the various vascular abnormalities of the cerebral and spinal vasculature.
Methods—A review of literature regarding various developmental abnormalities including brain and spinal cord arterio-venous malformations (AVMs), arterio-venous fistulae (AVFs), micro AVMs, micro-fistulae, aneurysms and cavernomas that occur in pediatric and adult population subsets of HHT. Both patients
underwent thorough clinical and laboratory evaluation. The pediatric patient underwent a contrast enhanced
computed tomography (CECT) of the chest; cerebral, Pulmonary & celiac angiography. The adult patient
underwent cerebral and spinal angiography.
Conclusion—The spectrum of vascular malformations in Hereditary Hemorrhagic Telengiectasia (HHT)
is varied.The incidence and manifestations of brain and spinal cord AVMs, AVFs, micro AVMs, micro-fistulae, aneurysms and cavernomas are different in the pediatric and adults affected by the disease. Cerebral
and spinal angiography are necessary in characterising the various developmental vascular abnormalities in
order to guide further management