Neurofibromatosis type – 1 (NF-1) presenting as intracerebral haemorrhage in a young adult- unveiling a rare culprit

Abstract

Neurofibromatosis type I (NF-I) is an autosomal dominant disorder.Epidemiologic data suggests it affects 1 in 3000 individuals. Various vascular abnormalities are reported to be associated with NF-1. Amongst these cerebrovascular anomalies are common in form of vascular stenosis or aneurysms. Arteriovenous malformations of the brain are still rarely found.We present a case of a 24 year old male who presented to this hospital with one episode of generalised tonic clonic seizure. After clinical examination and investigations the diagnosis of intracerebral haemorrhage due to rupture arteriovenous malformation and NF-1 was made. This report highlights the rare association of intracerebral vasculopthy with NF-1.