Abstract

We aim to provide a concise, evidence-based framework to assist secondary level, community and acute paediatricians during a 20–60 min annual review of children with neurofibromatosis type 1. This review does not cover all aspects of the disorder. We recognise the importance of an overview of the pathogenesis, molecular genetic testing, clinical manifestations and management; we shall cover some of this briefly, but this is not our focus here. We focus instead on the following areas: (A) what questions should be asked during annual review, (B) what should be included in a focused examination, (C) when to request further investigations and (D) when should a referral be made to tertiary specialists and other members of the multidisciplinary team. Ongoing debates regarding screening remain in certain areas, particularly regarding imaging and ophthalmology follow-up; here we summarise the differing opinions and make a recommendation based on the currently available evidence.