Hereditary Haemorrhagic Telangiectasia in Children. Endovascular Treatment of Neurovascular Malformations

Abstract

Hereditary haemorrhagic telangiectasia (HHT) is a heterogeneous disease that may present with different clinical phenotypes and different clinical expressions. Concerning the neurovascular expressions of this disease, the paediatric age group in particular presents with potentially devastating symptomatic phenotypes. The purpose of this article was to review the therapeutic results of endovascular treatment of neurovascular malformations in children. A total of 31 children under the age of 16 were included in this retrospective analysis. All children were treated in a single centre. Twenty children presented with 28 arterio venous (AV) fistulae including seven children with spinal AV fistulae and 14 children with cerebral AV fistulae (one child had both a spinal and cerebral fistulae). Eleven children had small nidus type AV malformations. All embolizations were performed in a single centre employing superselective glue injection. Follow-up ranged between three and 168 months (mean: 66 months) A total of 115 feeding vessels were embolized in 81 single sessions resulting in a mean overall occlusion rate of the malformation of 77.4% (ranging from 30 to 100%). Two of 30 patients (6.5%) died as a direct complication of the embolization procedure, two patients (6.5%) had a persistent new neurological deficit, eight patients (26.7%) were clinically unchanged following the procedure. In 11 patients (36.7%) an amelioration of symptoms but no cure could be achieved, six patients (20%) were completely asymptomatic following the endovascular procedure. In the surviving patients morphological complete occlusion was possible in twelve patients (38%), therapy is still not complete in six patients. Since the natural history of neurovascular manifestations of HHT in children is associated with a high morbidity and mortality, therapeutic intervention is mandatory. In most instances a morphological target can be identified, therefore even partial and staged treatment can be performed. Our results demonstrate that in 27/31 patients these targeted interventions resulted in stabilizing the disease, ameliorating the symptoms or even in curing the patient. The endovascular approach employing glue as the embolizing agent represents therefore a safe and efficient way to control the neurovascular phenotypes of HHT.