LINK (Let’s Increase Neurofibromatosis Knowledge), the British Neurofibromatosis Association, organised a major European Symposium at Egham, Surrey, Feb 5-7, 1987, and clarified the distinguishing features of two syndromes with separate genetic markers: 1) von Recklinghausen’s neurofibromatosis (VRNF), the so-called peripheral type, and 2) bilateral acoustic neurofibromatosis (BANF), the central variety.

VRNF with a prevalence of 1 in 3000 is inherited as an autosomal dominantcondition with 100% penetrance and a high mutation rate. Serious complications, occurring in about 20% include large plexiform neurofibromas, kyphoscoliosis, and optic nerve or chiasmal gliomas. Children should be examined twice a year to check for complications.

The gene responsible for VRNF, although not identified, was narroweddown to a few chromosomes by data that provided an ‘exclusion map’ at this conference. The genetic analysis of BANF patients has shown deletions on chromosome 22. a step closer to the identification of the defective gene responsible for acoustic neuromas. [1]

COMMENT: A similar conference on neurofibromatosis is scheduled for July 13 - 15, 1987. in the U.S. to be sponsored by the National Institute of Health, Bethesda, Md. and chaired by Dr. David A. Stumpf of Northwestern University Medical School. It is perhaps unfortunate that the European and US sponsors could not have pooled their resources to make this an International Symposium.