Schwannomatosis: The Overlooked Neurofibromatosis?

Abstract

Imaging plays a critical role in diagnosing schwannomatosis, and a basic understanding of this syndrome is of interest to diagnostic radiologists. Moreover, it is imperative that radiologists be able to differentiate schwannomatosis from NF2 on imaging because there are significant differences in the management of these two diseases and clinical outcomes for affected patients.

Schwannomatosis: a genetic and epidemiological study

“…However, they found a similar prevalence of 10 and 11 cases, respectively. The similarity of the prevalences for the two conditions has led to the widespread quoting of a birth incidence figure of 1 in 40 000 for schwannomatosis19 as this is similar to the original birth incidence of 1 in 33–40 000 quoted in the UK15 and is reported on the Children’s Tumour Foundation website (http://www.ctf.org/understanding-nf/schwannomatosis) (accessed 9th March 2018). However, this figure has never been substantiated.…”

Ultrasound in the diagnosis of peripheral neuropathy: structure meets function in the neuromuscular clinic

“…When only imaging data is considered, hypertrophic neuropathy may be mistaken for a peripheral nerve tumour and vice versa, particularly when nerve enlargement is segmental or when tumours are multifocal, for example, neurofibromatosis, multiple schwannomatosis and intraneural perineurioma 74 75. A comprehensive review of US in peripheral nerve tumours is beyond the scope of this review (and readers are directed to specific reviews on the topic76 77).…”

Recent developments in brain tumor predisposing syndromes

“…The incidence of schwannomatosis is not known at the moment, but the incidence has been estimated to be as high as 1:40 000 [42][43][44]. Family history has been reported in about 15% of the patients, while the majority of the cases are sporadic [45].…”