Familial Involvement of the Nervous System by Multiple Tumors of the Sheaths and Enveloping Membranes: Hereditary, Clinical, and Pathological Study of Central and Peripheral Neurofibromatosis

Abstract

Von Recklinghausen (1) in 1882 recognized the fact that the presence of “multiple neuromas” could not be considered as a purely acquired disease, but Thomson (2) in 1900 was the first to point out clearly that the condition was hereditary. Since that time the hereditary and familial character of the disease has been fully established and is generally recognized. Cases of multiple neurofibromatosis with diffuse involvement of the central nervous system are unusual. The association of this condition with multiple meningeal tumors is rare and more so when there is a distinct hereditary background. The present communication is a clinico-pathological study of familial von Recklinghausen9s disease of the central and peripheral nervous system associated with meningeal and glial tumors. Review of the Literature Multiple neurofibromatosis or von Recklinghausen9s disease may be looked upon as a congenital anomaly of the nervous system in a hereditary and dysontogenetic sense, according to Hosoi (3). Penfield (4) describes the condition as a “familial disease of diffuse character in which meningeal fibro-blastomas, gliomas and sarcomas may occasionally be encountered.” Preiser and Davenport (5) reviewed the literature and collected 30 cases of the familial type. They were able to show that the condition appears in both sexes and follows the mendelian law as a dominant trait. Hoekstra (6) in 1922 also pointed out the hereditary tendency in this condition. While multiple neurofibromatosis is a system disease affecting mainly the peripheral nerves (7), involvement of the central nervous system, though unusual, is by no means rare. German (8), reporting upon the changes in the ear in bilateral acoustic nerve tumors, states that over 30 cases of central neurofibromatosis have been recorded. Cases with acoustic nerve involvement have been reported recently by van Bogaert (9), Lewin (10), de Klejn and Gray (11), and others. Of interest in this respect is the occurrence of bilateral acoustic nerve tumors. Although these may rarely occur without evidence of von Recklinghausen9s disease elsewhere in the nervous system, at the present time it is generally conceded that they represent a local manifestation of a general disease process. Gardner and Frazier (12), in a review of the literature, were able to collect 44 cases of bilateral tumors of the acoustic nerve, 37 of which were associated with neurofibromatosis. In addition, they report a family in which 38 members were affected with bilateral deafness which in the autopsied cases was shown to be due to bilateral acoustic tumors. The condition in this family was transmitted as a mendelian dominant. Roger, Alliez and Sarradon (13) have described a family in which bilateral acoustic nerve tumors were verified at autopsy in one member and clinical evidence of a cerebellar tumor was present in four others. These writers believe that there is not sufficient evidence to warrant the full acceptance of Gardner and Frazier9s view that bilateral acoustic nerve tumors, as a part of neurofibromatosis, are transferred as a mendelian dominant. In reviewing the literature Roger and his associates (13) were able to find only 7 convincing family histories of intracranial involvement.