Key features of neurofibromatoses 1 and 2
- Correspondence to Georgina Bird-Lieberman, Paediatric Neurology, Leeds General Infirmary, F Floor Martin Wing, LGI, LS1 3EX, Leeds, UK;
The neurofibromatoses are a group of relatively common autosomal dominant disorders that have a broad spectrum of clinical manifestations. While most clinicians are familiar with the key features of neurofibromatosis 1 (NF1), many of the less common features can be overlooked. NF2 is much rarer and more confined to the nervous system and many paediatricians feel less confident in diagnosing. This comprehensive review goes through both NF1 (supplementary online table 1) and NF2 (supplementary online table 2) in detail so that standardised protocols for assessment and management of these patients can lead to optimal care by all clinicians.
■ NF1 and NF2 are clinically distinct syndromes that should not be confused.
■ Neurofibromas are indicative of NF1 and schwannomas of NF2.
■ Vestibular schwannomas and meningiomas do not occur in NF1 so screening for these in NF1 would be inappropriate.
■ Cutaneous or spinal schwannomas, cranial or spinal meningiomas, focal amyotrophy or cataracts may be the first signs of NF2 in young people.
■ Optimal care requires and MDTand input from a specialist centre.