CLINICAL REPORT Health Supervision for Children With Neurofibromatosis

Neurofibromatosis 1 is a multisystem disorder that primarily involves the skin and nervous system. Its population prevalence is 1 in 3500. The condition usually is recognized in early childhood, when cutaneous manifestations are apparent. Although neurofibromatosis 1 is associated with marked clinical variability, most affected children do well from the standpoint of their growth and development. Some features of neurofibromatosis 1 are present at birth, and others are agerelated abnormalities of tissue proliferation, which necessitate periodic monitoring to address ongoing health and developmental needs and to minimize the risk of serious medical complications. This clinical report provides a review of the clinical criteria needed to establish a diagnosis, the inheritance pattern of neurofibromatosis 1, its major clinical and developmental manifestations, and guidelines for monitoring and providing intervention to maximize the growth, development, and health of an affected child. INTRODUCTION This clinical report was designed to assist the pediatrician in caring for the child in whom the diagnosis of neurofibromatosis has been made. The pediatrician’s first contact with the child is usually during infancy. However, neurofibromatosis occasionally is diagnosed in the fetus during pregnancy, and the parents are referred for advice. Therefore, guidance is also offered for the pediatrician in advising expectant parents whose fetus is affected by neurofibromatosis. At least 2 distinct types of neurofibromatosis are recognized: neurofibromatosis 1 (NF1 [previously known as von Recklinghausen disease or generalized neurofibromatosis]) and neurofibromatosis 2 (NF2 [previously known as either central or bilateral acoustic neurofibromatosis]). Only issues concerning the diagnosis and management of NF1 are addressed in this clinical report.1–10 NF1 is a multisystem disorder in which some features may be present at birth and others are age-related manifestations. It affects approximately 1 in 3500 individuals.11,12 A National Institutes of Health (NIH) Consensus Development Conference9,13,14 regarding NF1 demarcated the following 7 features, of which 2 or more are required to establish the diagnosis of NF1: 1. six or more cafe-au-lait spots (CLSs) equal to or greater than 5 mm in longest diameter in prepubertal patients and 15 mm in longest diameter in postpubertal patients; 2. two or more neurofibromas of any type or 1 plexiform neurofibroma; 3. freckling in the axillary or inguinal regions; 4. optic glioma (optic pathway glioma); 5. two or more Lisch nodules (iris hamartomas); 6. a distinctive osseous lesion, such as sphenoid wing dysplasia or cortical thinning of the cortex of long bones, with or without pseudoarthrosis; and 7. a first-degree relative (parent, sibling, or child) with NF1 according to the aforementioned criteria. In addition, although areas of increased T2 signal intensity are commonly identified on MRI of the brain, they do not represent an obligatory feature of NF1 and do not have any clinical significance. Therefore, the NIH Consensus Development Conference did not recommend routine neuroimaging of the brain as a means of establishing a diagnosis of NF1.13,14 www.pediatrics.org/cgi/doi/10.1542/ peds.2007-3364 doi:10.1542/peds.2007-3364 All clinical reports from the American Academy of Pediatrics automatically expire 5 years after publication unless reaffirmed, revised, or retired at or before that time.