Robert Listernick,
David H Gutmann
Chapter 53 – Neurofibromatosis
Neurofibromatosis type 1 (NF1) is an autosomal-dominant tumor predisposition syndrome in which affected children are prone to the development of low-grade astrocytic (glial) neoplasms along the optic pathway (optic pathway glioma, OPG). In this regard, 30% of OPGs are found in children with NF1, making NF1 the most common genetic cause for this visual pathway tumor. The protean manifestations and unpredictability of the clinical course of an individual with NF1 often make this complex condition challenging to manage for the practitioner.
Clinical backgroundHistorical developmentHistorical depictions of individuals who clearly display manifestations of NF1 can be found in art dating back to as early as the 15th century. Frederick Daniel von Recklinghausen provided the first complete pathologic description of NF1 (1881), reporting both the gross and histologic features, and demonstrating for the first time that the cutaneous masses …
