Abstract
Neurofibromatosis (NF) has been categorized as type I (von Recklinghausen) or type II (formerly “Central NF”), and other categories have been proposed (III-VII).
Our investigations concern a large kindred with NF II that spans 7 generations and includes over 300 members. Affected individuals do not fulfill the diagnostic criteria of NF I. Their symptoms and signs are direct byproducts of the emergence of nervous system neoplasia. Clinical and histologic data from 28 patients (14 males, 14 females) indicate that the most prevalent neoplasms are acoustic neuromas (AN) (15 cases) followed by meningiomas (MEN) (8 cases) and ependymomas (2 cases). MEN, if present, are diagnosed during puberty or shortly after (earliest onset 16 years) and tend to be multiple. Individuals developing symptoms later (latest onset 6th decade) tend to be free of MEN, and instead develop AN which most often are bilateral. None of the affected developed optic glioma or pheochromocytoma.
Molecular studies of MEN and AN tissue were indicative of a loss of genes on chromosome 22 (Seizinger et al, 1986), a strong clue to the chromosomal location of the defect. Molecular studies of this kindred by the same investigators are in process to determine whether the NP II gene is on chromosome 22.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Wertelecki, W., Superneau, D. & Forehand, L. NEUROFIBROMATOSIS II (ACOUSTIC NEUROMA-MENINGIOMA). Pediatr Res 21 (Suppl 4), 295 (1987). https://doi.org/10.1203/00006450-198704010-00767
Issue Date:
DOI: https://doi.org/10.1203/00006450-198704010-00767