Health Supervision for Children With Neurofibromatosis

Abstract

This set of guidelines is designed to assist the pediatrician in caring for the child in whom the diagnosis of neurofibromatosis has been made. Although the pediatrician's first contact with the child is usually during infancy, occasionally the pregnant woman who has been given the prenatal diagnosis of neurofibromatosis will be referred for advice. Therefore, these guidelines offer advice for this situation as well.

At least two distinct types are recognized—neurofibromatosis 1, or NF-1 (previously known as von Recklinghausen disease or generalized neurofibromatosis), and neurofibromatosis 2, or NF-2 (previously known as bilateral acoustic neurofibromatosis). This discussion addresses only issues concerning the diagnosis and management of NF-1.^1-8

Neurofibromatosis 1 is a progressive, multisystem disorder affecting about 1 in 3,000 individuals.⁹ A National Institutes of Health (NIH) Consensus Development Conference¹⁰ regarding NF-1 demarcated seven features, of which two or more are required to establish firmly the diagnosis of NF-1:

1. Six or more cafe-au-lait spots (CLS) or macules, greater than or equal to 5 mm in diameter in prepubertal patients and 15 mm in diameter in postpubertal patients;

2. Two or more neurofibromata of any type, or one plexiform neurofibroma;

3. Freckling in the axillary or inguinal region;

4. Optic glioma;

5. Two or more Lisch nodules (iris hamartomas);

6. A distinctive osseous lesion such as sphenoid dysplasia or cortical thinning of long bones, with or without pseudarthrosis; or

7. A first-degree relative (parent, sibling, or child) with NF-1 according to the preceding criteria.

Diagnosis in nonfamilial pediatric cases may be difficult because certain clinical features are age-pendent.