Symptomatic and Stenotic Developmental Venous Anomaly with Pontine Capillary Telangiectasia: A Case Report with Genetic Considerations.

Stenotic developmental venous anomalies (DVAs) often present with neurological deficits. In addition, cerebral capillary telangiectasia (CCT) coexisting with DVA is rarely encountered, and its pathophysiology, including the underlying genetics, and appropriate management remain uncertain. A 46-year-old man without any medical history of note was referred to our hospital with gradually worsening cerebellar ataxia. Two months after symptom onset, ataxic dysarthria and gait emerged. Brain magnetic resonance imaging showed CCT occupying the pons and left cerebellar peduncle. Subsequent catheter angiography demonstrated a DVA leading from the mass into the cavernous sinus with marked outlet stenosis and flow stagnation. We hypothesized that venous congestion was the source of gradual neurological deterioration and therefore initiated anticoagulation. Symptoms showed mild improvement, and his neurological status has remained stable as of 1 year after symptom onset. Whole-exome sequencing of germline DNA did not reveal any rare variants in genes previously reported as pertinent to vascular malformations. Anticoagulation may be a useful option in patients with non-thrombotic, stenotic DVA for whom neurological status did not improve under expectant management. Genetic analysis of this patient did not reveal any pathogenic mutations, and further investigation of somatic mutations is necessary to elucidate potential genetic causes.