Case ReportsMRI Diagnosis of NF-1 in Children Without Café-Au-Lait Skin Lesions
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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Cited by (21)
Neuroimaging of phacomatoses
2004, Feuillets de RadiologieNeurofibromatosis: Implications for the general surgeon
2002, Journal of the American College of SurgeonsUnidentified bright objects associated with features of neurofibromatosis 1
2002, Pediatric NeurologyThe role of surgery in children with neurofibromatosis
2001, Journal of Pediatric SurgeryCitation Excerpt :Radiographic screening is not part of the routine diagnostic examination for children with neurofibromatosis, and routine screening with CT, MRI, electroencephalogram, and visual electrophysiology examinations has been shown to be unwarranted in the routine examination of individuals with NF.18 However, when NF1 is diagnosed early in childhood, baseline brain imaging often is performed at the time of diagnosis, rather than only investigating known or suspected cerebral pathology.19 Careful neurologic screening of teenagers and young adults should be performed if a decision is made not to obtain brain imaging.
Café au Lait Macules and Associated Genetic Syndromes
2020, Journal of Pediatric Health CareCitation Excerpt :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).