Case report of a de novo brainstem arteriovenous malformation in an 18-year-old male and review of the literature

Abstract

De novo intracerebral arteriovenous malformations (AVMs) are exceedingly rare with only seven reported cases in the literature. Although generally considered congenital by nature, the lesions do not manifest themselves clinically until the third or fourth decades of life. However, with the advent of improved imaging modalities and more frequent surveillance, an increasing number of de novo cases are being found challenging the concept AVMs develop in the perinatal/antenatal period. Alternatively, this phenomenon could represent a distinct entity in which lesion development occurs after birth. A PubMed search of "de novo cerebral arteriovenous malformation" was performed in which seven reported cases were found. The mean age at diagnosis was 14.7 years with a mean follow-up imaging study of 5.8 years. Lesion location was supratentorial in all previously described cases. This case involves an 18-year-old male with congenital hydrocephalus and seizures diagnosed at 7 months of age. The patient underwent a ventriculoperitoneal shunt and was followed frequently by a neurologist. The last diagnostic imaging was an unremarkable MRI of the brain at age 12. Seven years later, the patient presented with an intracerebral hemorrhage. A CT angiogram demonstrated a large brainstem AVM with an intraparenchymal hemorrhage and intraventricular extension. This case is unique in that it is the first infratentorial de novo AVM. The congenital nature of AVMs is challenged with the increasingly described series of patients with previously documented normal radiographic imaging. This suggests there may be a subset of patients genetically predisposed to postnatal development of AVMs.

Arteriovenous Malformation in a Youth with Atypical Autism Symptoms

“…There have been case reports describing de novo cerebral AVMs in children who were symptomatic prior to their discovery via subsequent brain MRI. 6, 7 The growth of his AVM over time, however, brings up speculation of the contribution of the AVM to earlier neurodevelopment changes. The location within the basal ganglia, thalamus and internal capsule which are brain areas containing pathways and interconnections of networks from multiple neural systems may have contributed to neurodevelopmental and sensory differences.…”

“…In our literature search, there is only 1 other reported case of a child with ASD and cerebral AVM. 7 …”

Management of Unbled Brain Arteriovenous Malformation Study

“…7 There is no special predilection for AVMs in any part of the brain, the locations reflecting the relative volume of the brain represented by a given region. 6 Location appears to have no bearing on the tendency for hemorrhage, growth, regression, vascular complexity, or size. The vast majority of AVMs are single, but noninvasive imaging has increased the number of multiple AVMs, one series citing 9%.…”

“…3 Long considered congenital, recent reports document de-novo cases. 6 It remains unknown which ones continue to develop and which ones are status anomalies. No method has been generally agreed on for defining the epicenter of an AVM.…”

Total temporary occlusion of blood flow for several hours to treat a giant deep arteriovenous malformation: A series of multiple operations to save a young life

“…A vast majority of all lesions are thought to have a congenital nature, however, at present, some authors report noncongenital cases. [1710] 45–72% of the cases manifested with hemorrhage, and go seizures with 18–35% of the cases. Less common symptoms are chronic headaches and focal neurological deficits with 6–14 and 3–10% of the cases, respectively.…”