Elsevier

Pediatric Neurology

Volume 18, Issue 3, March 1998, Pages 269-271
Pediatric Neurology

Case Reports
MRI Diagnosis of NF-1 in Children Without Café-Au-Lait Skin Lesions

https://doi.org/10.1016/S0887-8994(97)00189-6Get rights and content

Abstract

Three of ten children with optic gliomas satisfy the 1987 National Institutes of Health consensus criteria for neurofibromatosis type 1 (NF-1). The diagnosis in these cases is based on the presence of café-au-lait skin lesions in addition to the optic glioma. Two children without skin lesions have typical findings on magnetic resonance imaging (MRI) that also suggest a diagnosis of NF-1. A review of 281 NF-1 children with brain MRI results demonstrates the presence of these abnormalities in 57% of the cases. It is suggested that this MRI abnormality is sufficiently specific to add this feature to the list of diagnostic criteria. When MRI findings are present in a child with optic glioma and without skin lesions, counseling should be given for NF-1. It is noteworthy that these typical MRI findings in NF-1 are less common in adulthood, apparently because of spontaneous resolution.

Introduction

A 7-year-old optic glioma patient with no other neurofibromatosis type 1 (NF-1) diagnostic criteria is noted on magnetic resonance imaging (MRI) to have the T2-weighted high-signal lesions that were reported earlier in NF-1 children [1]. A study of nine other optic glioma cases in our Pediatric Neuro-oncology clinic reveals a similar case. What follows is a review of the literature relative to the interrelated incidence of optic glioma, NF-1, and MRI brain imaging with particular reference to a diagnosis of NF-1 in early childhood.

Section snippets

Patients

Ten optic pathway glioma patients had an age range of 2-17 years at the time of the MRI (Table 1). A diagnosis of NF-1 was established by the accepted criteria in three patients (Table 2) [2], each of whom had multiple café-au-lait skin lesions. Two additional patients (numbers 1 and 5) were considered likely to have NF-1 on the basis of MRI studies demonstrating high-signal areas in basal ganglia, brainstem, and/or cerebellar white matter (Fig. 1). They did not have café-au-lait lesions.

Results

A literature search revealed 281 children with confirmed NF-1 who underwent a brain MRI study 1, 5, 6, 7, 8, 9, 10, 11. In all instances the diagnosis of NF-1 was established by standard criteria, which did not include MRI. Adding the three patients from our group provided a total of 284. Of these patients, 162 (57%) manifested the MRI findings described in typical NF-1 patients. The abnormalities are usually high-signal changes on T2-weighted images, although T1-weighted abnormalities may be

Discussion

The definitive diagnosis of NF-1 will eventually rely on molecular genetics 12, 13. However, until that technology is available, clinicians will continue to use the criteria established by a National Institutes of Health consensus conference for the rapid assessment that families require. There are four probability figures that are helpful. First, 15-20% of NF-1 children are at risk for an optic pathway glioma 4, 14, 15. Although there is disagreement regarding the need and frequency for

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    Note. Recommendations to revise these criteria have been made to include the addition of other clinical features such as choroidal freckling, nevus anemicus, unidentified bright objects, and availability of molecular testing for NF 1 unknown at the time of the Consensus Conference (Curless, Siatkowski, Glaser, & Shatz, 1998; Ferrari, Masurel, Olivier-Faivre, & Vabres, 2014; Parrozzani et al., 2015; Tadini et al., 2014). Source: National Institutes of Health Consensus Development Conference (1988).

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