Review Article Neurofibromatosis 1: Clinical Manifestations and Diagnostic Criteria

Abstract

Neurofibromatosis 1 occurs in 2 to 3 people per 10,000. The most frequent clinical features are café-au-Iait macules, neuro-fibromas, intertriginous freckling, Lisch nodules, and learning disabilities, but optic and other gliomas, malignant peripheral nerve sheath tumors, and characteristic osseous lesions also can be present. Two striking aspects of neurofibromatosis 1 are its progressive nature and its extreme variability. This article reviews the natural history and some important clinical manifestations of neurofibromatosis 1, with emphasis on features that constitute the standard diagnostic criteria. The pathogenic implications of these clinical manifestations are also considered. (J Child Neurol 2002;17:548-554). CLINICAL FEATURES OF NEUROFIBROMATOSIS 1 Cafe-au-lait Spots Caf6-au-lait spots are the first clinical feature of neurofi-bromatosis 1 that becomes apparent in most affected chil-dren. These macules range in size from slightly bigger than a freckle to very large, sometimes covering most of a part of the body on one side. The typical caf6-au-lait spot is 10 to 30 mm in diameter, ovoid in shape, and uniform in color