Acute paraplegia due to spinal arteriovenous fistula in two patients with hereditary hemorrhagic telangiectasia.
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.
Poisson
Alice
A
Hospices Civils de Lyon, Service de Génétique et centre de référence national pour la maladie de Rendu-Osler, Hôpital de l'Hôtel Dieu, 1, place de l'Hôpital, 69288 Lyon Cedex 02, France.
Vasdev
Ashok
A
Brunelle
Francis
F
Plauchu
Henri
H
Dupuis-Girod
Sophie
S
D000208:Acute Disease; D001164:Arteriovenous Fistula / Q000150:complications* / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D002648:Child; D002869:Chromosome Aberrations; D003937:Diagnosis, Differential; D004621:Embolization, Therapeutic; D005500:Follow-Up Studies; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging; D008297:Male; D009460:Neurologic Examination; D010264:Paraplegia / Q000209:etiology*; D013116:Spinal Cord / Q000098:blood supply* / Q000473:pathology; D020760:Spinal Cord Ischemia / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D020758:Spinal Cord Vascular Diseases / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy