A Spinal Arteriovenous Fistula in a 3-Year Old Boy

We present a case of a 3-year-old boy with neurodegeneration. Family history reveals Rendu-Osler-Weber disease. Magnetic resonance imaging (MRI) of the spinal cord and spinal angiography showed a spinal arteriovenous fistula with venous aneurysm, causing compression of the lumbar spinal cord. Embolisation of the fistula was executed, resulting in clinical improvement. A week after discharge he was readmitted with neurologic regression. A second MRI scan revealed an intraspinal epidural haematoma and increase in size of the aneurysm with several new arterial feeders leading to it. Coiling of the aneurysm and fistulas was performed. Postoperative, the spinal oedema increased despite corticoids, causing more extensive paraplegia of the lower limbs and a deterioration of his mental state. A laminectomy was performed and the aneurysm was surgically removed. Subsequently, the boy recovered gradually. A new MRI scan after two months showed less oedema and a split, partly affected spinal chord. This case shows the importance of excluding possible arteriovenous malformations in a child presenting with progressive neurodegeneration. In particular when there is a family history for Rendu-Osler-Weber disease, scans should be performed instantly to rule out this possibility. The case also highlights the possibility of good recovery of paraplegia in paediatric Rendu-Osler-Weber patients. 1. Introduction When confronted with a paediatric patient with developmental degeneration, the most likely causes are a (congenital) neurologic or metabolic disorder, a genetic defect or syndrome, exposure to a toxic agent, or an infection of the brain or nerve system [1]. The main localisation of such disorders must be searched for in the cranium. With this case report we want to emphasize that an arteriovenous malformation (AVM) might also be responsible for the symptoms of regression, especially when there is a suspicion of Rendu-Osler-Weber disease (ROWD), an autosomal dominant vascular disorder with a variety of clinical manifestations. In this disease epistaxis, gastrointestinal bleeding, and iron deficiency anaemia are most commonly reported, along with characteristic mucocutaneous telangiectases [2]. In addition, AVMs might occur in the pulmonary or hepatic circulations or cerebrally as well as in or around the spinal cord as arteriovenous fistulas (AVFs). These complications demand knowledge of the risks and benefits of screening and treatment in affected patients [3, 4]. We report on a 3-year-old boy, initially presenting with developmental regression. A spinal AVF was