The diagnosis of neurofibromatosis-1 in the child under the age of 6 years
A. C. Obringer, A. T. Meadows and E. H. Zackai
Division of Oncology, Children's Hospital of Philadelphia, PA 19104.
One-hundred sixty children under the age of 6 years presented for
diagnostic evaluation regarding neurofibromatosis-1 (NF-1). Using the
National Institutes of Health Consensus Conference criteria, 151 (94%) of
the children were classified on initial examination: 112 were diagnosed as
having NF-1 and 39 were found to be unaffected (all 39 have remained
asymptomatic on follow-up). Nine could not be classified (3 have
subsequently met minimal diagnostic criteria on follow-up). Clinical
manifestations of NF-1 include cafe au lait spots (97%), freckling in the
axillary or inguinal region (81%), Lisch nodules (30%), neurofibromas
(15%), pseudoarthrosis (6%), and optic nerve gliomas (4%). More than
minimal diagnostic criteria were met by 80% of the children who had a
positive family history and by 32% of those who did not. Thus, the clinical
diagnosis of NF-1 is possible in the child who is under 6 years of age, and
the National Institutes of Health criteria are useful and applicable.
