A Child Misspelling Post-Craniotomy

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder of mucocutaneous telangiectasia and shunting visceral arteriovenous malformations (AVMs). Cerebral AVMs predispose to haemorrhagic stroke and pulmonary AVMs (PAVM) to embolic arterial ischaemic stroke (AIS). Essential to management is awareness of such visceral features which are often clinically silent and may manifest at any age. Multi-organ involvement presents to numerous medical and surgical specialties hence the implications of various systemic aspects may go unrecognised. We report a 9-year-old boy with known HHT who had embolic AIS via an asymptomatic but clinically significant PAVM within days of embolisation and resection of an unruptured cerebral AVM. This case highlights how secondary prevention of PAVM-associated AIS is challenged by screening only symptomatic children. We discuss how updated Second International HHT Guidelines for the Diagnosis and Management of HHT, used alongside expert multidisciplinary team and cross-speciality working, may minimise serious disease risks including childhood AIS.