Neurofibromatosis with congenital malformation of the spinal cord

Abstract

The first description of generalized neurofibro-matosis has been attributed (Worster-Drought, Dickson, and McMenemey, 1937) to Tilesius in 1793, though the disease is usually named after von Recklinghausen (1882). It was von Recklinghausen who first suggested that the many manifestations of this disease were not purely acquired, but were a "growth perversion of the foetal neuroectoderm'. Later workers (Gardner and Frazier, 1930; Turner and Gardner, 1938) showed that the disease had a hereditary basis, being transmitted by a Mendelian dominant gene. It was also subsequently shown that the 'multiple neuromas ' noted by von Reckling-hausen were in fact derived not from nerve cells per se, but from the 'supportive or protective deriva